COL4A5 c.1871G>A ;(p.G624D)

Variant ID: X-107842023-G-A

NM_033380.2(COL4A5):c.1871G>A;(p.G624D)

This variant was identified in 44 publications

View GRCh38 version.




Publications:


Polygenic risk affects the penetrance of monogenic kidney disease.

Medrxiv : The Preprint Server For Health Sciences
Khan, Atlas A; Shang, Ning N; Nestor, Jordan G JG; Weng, Chunhua C; Hripcsak, George G; Harris, Peter C PC; Gharavi, Ali G AG; Kiryluk, Krzysztof K
Publication Date: 2023-05-10

Variant appearance in text: COL4A5: G624D
PubMed Link: 37214819
Variant Present in the following documents:
  • media-2.xlsx, sheet 2
  • media-2.xlsx, sheet 3
View BVdb publication page



The Phenotypic Spectrum of COL4A3 Heterozygotes.

Medrxiv : The Preprint Server For Health Sciences
Solanki, Kaushal V KV; Hu, Yirui Y; Moore, Bryn S BS; Abedi, Vida V; Avula, Venkatesh V; Mirshahi, Tooraj T; , ; Strande, Natasha T NT; Bucaloiu, Ion D ID; Chang, Alexander R AR
Publication Date: 2023-04-24

Variant appearance in text: COL4A5: Gly624Asp
PubMed Link: 37163122
Variant Present in the following documents:
  • nihpp-2023.04.11.23288298v2.pdf
View BVdb publication page



Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: COL4A5: 1871G>A; Gly624Asp
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: COL4A5: 1871G>A; Gly624Asp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece.

Genes
Hadjipanagi, Despina D; Papagregoriou, Gregory G; Koutsofti, Constantina C; Polydorou, Christiana C; Alivanis, Polichronis P; Andrikos, Aimilios A; Christodoulidou, Stalo S; Dardamanis, Manthos M; Diamantopoulos, Athanasios A AA; Fountoglou, Anastasios A; Frangou, Eleni E; Georgaki, Eleni E; Giannikouris, Ioannis I; Gkinis, Velissarios V; Goudas, Pavlos C PC; Kalaitzidis, Rigas G RG; Kaperonis, Nikolaos N; Koutroumpas, Georgios G; Makrydimas, George G; Myserlis, Grigorios G; Mitsioni, Andromachi A; Paliouras, Christos C; Papachristou, Fotios F; Papadopoulou, Dorothea D; Papagalanis, Nikolaos N; Papagianni, Aikaterini A; Perysinaki, Garyfalia G; Siomou, Ekaterini E; Sombolos, Konstantinos K; Tzanakis, Ioannis I; Vergoulas, Georgios V GV; Printza, Nicoletta N; Deltas, Constantinos C
Publication Date: 2022-11-24

Variant appearance in text: COL4A5: 1871G>A; G624D
PubMed Link: 36553470
Variant Present in the following documents:
  • Main text
  • genes-13-02203.pdf
View BVdb publication page



A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome.

Kidney International Reports
Gibson, Joel T JT; de Gooyer, Mikayla M; Huang, Mary M; Savige, Judy J
Publication Date: 2022-11

Variant appearance in text: COL4A5: Gly624Asp
PubMed Link: 36531881
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.

Frontiers In Medicine
Ćomić, Jasmina J; Riedhammer, Korbinian M KM; Günthner, Roman R; Schaaf, Christian W CW; Richthammer, Patrick P; Simmendinger, Hannes H; Kieffer, Donald D; Berutti, Riccardo R; Tasic, Velibor V; Abazi-Emini, Nora N; Nushi-Stavileci, Valbona V; Putnik, Jovana J; Stajic, Nataša N; Lungu, Adrian A; Gross, Oliver O; Renders, Lutz L; Heemann, Uwe U; Braunisch, Matthias C MC; Meitinger, Thomas T; Hoefele, Julia J
Publication Date: 2022

Variant appearance in text: COL4A5: Gly624Asp
PubMed Link: 36117978
Variant Present in the following documents:
  • fmed-09-957733.pdf
View BVdb publication page



Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.

European Journal Of Human Genetics : Ejhg
Popp, Bernt B; Ekici, Arif B AB; Knaup, Karl X KX; Schneider, Karen K; Uebe, Steffen S; Park, Jonghun J; Bafna, Vineet V; Meiselbach, Heike H; Eckardt, Kai-Uwe KU; Schiffer, Mario M; Reis, André A; Kraus, Cornelia C; Wiesener, Michael M
Publication Date: 2022-12

Variant appearance in text: COL4A5: 1871G>A; Gly624Asp
PubMed Link: 36100708
Variant Present in the following documents:
  • Main text
  • 41431_2022_Article_1177.pdf
View BVdb publication page



Heterozygous Pathogenic COL4A3 and COL4A4 Variants (Autosomal Dominant Alport Syndrome) Are Common, and Not Typically Associated With End-Stage Kidney Failure, Hearing Loss, or Ocular Abnormalities.

Kidney International Reports
Savige, Judy J
Publication Date: 2022-09

Variant appearance in text: COL4A5: G624D
PubMed Link: 36090501
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



The 2019 and 2021 International Workshops on Alport Syndrome.

European Journal Of Human Genetics : Ejhg
Daga, Sergio S; Ding, Jie J; Deltas, Constantinos C; Savige, Judy J; Lipska-Ziętkiewicz, Beata S BS; Hoefele, Julia J; Flinter, Frances F; Gale, Daniel P DP; Aksenova, Marina M; Kai, Hirofumi H; Perin, Laura L; Barua, Moumita M; Torra, Roser R; Miner, Jeff H JH; Massella, Laura L; Ljubanović, Danica Galešić DG; Lennon, Rachel R; Weinstock, Andrè B AB; Knebelmann, Bertrand B; Cerkauskaite, Agne A; Gear, Susie S; Gross, Oliver O; Turner, A Neil AN; Baldassarri, Margherita M; Pinto, Anna Maria AM; Renieri, Alessandra A
Publication Date: 2022-05

Variant appearance in text: COL4A5: Gly624Asp
PubMed Link: 35260866
Variant Present in the following documents:
  • Main text
  • 41431_2022_Article_1075.pdf
View BVdb publication page



Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.

Scientific Reports
Gibson, Joel T JT; Huang, Mary M; Shenelli Croos Dabrera, Marina M; Shukla, Krushnam K; Rothe, Hansjörg H; Hilbert, Pascale P; Deltas, Constantinos C; Storey, Helen H; Lipska-Ziętkiewicz, Beata S BS; Chan, Melanie M Y MMY; Sadeghi-Alavijeh, Omid O; Gale, Daniel P DP; , ; Cerkauskaite, Agne A; Savige, Judy J
Publication Date: 2022-02-17

Variant appearance in text: COL4A5: Gly624Asp
PubMed Link: 35177655
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_6525.pdf
View BVdb publication page



Modelling X-linked Alport Syndrome With Induced Pluripotent Stem Cell-Derived Podocytes.

Kidney International Reports
Lau, Ricky Wai Kiu RWK; Fisher, Craig C; Phan, Thanh Kha TK; Ozkocak, Dilara Ceyda DC; Selby, James J; Saini, Sheetal S; Mukundan, Sarvatha S; Wise, Andrea F AF; Savige, Judith J; Ho Poon, Ivan Ka IK; Haynes, John J; Ricardo, Sharon D SD
Publication Date: 2021-11

Variant appearance in text: COL4A5: G624D
PubMed Link: 34805641
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page



Genomics Integration Into Nephrology Practice.

Kidney Medicine
Pinto E Vairo, Filippo F; Prochnow, Carri C; Kemppainen, Jennifer L JL; Lisi, Emily C EC; Steyermark, Joan M JM; Kruisselbrink, Teresa M TM; Pichurin, Pavel N PN; Dhamija, Rhadika R; Hager, Megan M MM; Albadri, Sam S; Cornell, Lynn D LD; Lazaridis, Konstantinos N KN; Klee, Eric W EW; Senum, Sarah R SR; El Ters, Mireille M; Amer, Hatem H; Baudhuin, Linnea M LM; Moyer, Ann M AM; Keddis, Mira T MT; Zand, Ladan L; Sas, David J DJ; Erickson, Stephen B SB; Fervenza, Fernando C FC; Lieske, John C JC; Harris, Peter C PC; Hogan, Marie C MC
Publication Date: 2021

Variant appearance in text: COL4A5: 1871G>A; Gly624Asp
PubMed Link: 34746741
Variant Present in the following documents:
  • Main text
  • mmc5.xlsx, sheet 1
  • main.pdf
View BVdb publication page



Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine
Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL
Publication Date: 2021-09-09

Variant appearance in text: COL4A5: G624D
PubMed Link: 34503567
Variant Present in the following documents:
  • 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: COL4A5: G624D
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.

European Journal Of Human Genetics : Ejhg
Savige, Judy J; Storey, Helen H; Watson, Elizabeth E; Hertz, Jens Michael JM; Deltas, Constantinos C; Renieri, Alessandra A; Mari, Francesca F; Hilbert, Pascale P; Plevova, Pavlina P; Byers, Peter P; Cerkauskaite, Agne A; Gregory, Martin M; Cerkauskiene, Rimante R; Ljubanovic, Danica Galesic DG; Becherucci, Francesca F; Errichiello, Carmela C; Massella, Laura L; Aiello, Valeria V; Lennon, Rachel R; Hopkinson, Louise L; Koziell, Ania A; Lungu, Adrian A; Rothe, Hansjorg Martin HM; Hoefele, Julia J; Zacchia, Miriam M; Martic, Tamara Nikuseva TN; Gupta, Asheeta A; van Eerde, Albertien A; Gear, Susie S; Landini, Samuela S; Palazzo, Viviana V; Al-Rabadi, Laith L; Claes, Kathleen K; Corveleyn, Anniek A; Van Hoof, Evelien E; van Geel, Micheel M; Williams, Maggie M; Ashton, Emma E; Belge, Hendica H; Ars, Elisabeth E; Bierzynska, Agnieszka A; Gangemi, Concetta C; Lipska-Ziętkiewicz, Beata S BS
Publication Date: 2021-08

Variant appearance in text: COL4A5: 1871G>A; Gly624Asp; rs104886142
PubMed Link: 33854215
Variant Present in the following documents:
  • Main text
  • 41431_2021_Article_858.pdf
View BVdb publication page



Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.

European Journal Of Human Genetics : Ejhg
Savige, Judy J; Storey, Helen H; Watson, Elizabeth E; Hertz, Jens Michael JM; Deltas, Constantinos C; Renieri, Alessandra A; Mari, Francesca F; Hilbert, Pascale P; Plevova, Pavlina P; Byers, Peter P; Cerkauskaite, Agne A; Gregory, Martin M; Cerkauskiene, Rimante R; Ljubanovic, Danica Galesic DG; Becherucci, Francesca F; Errichiello, Carmela C; Massella, Laura L; Aiello, Valeria V; Lennon, Rachel R; Hopkinson, Louise L; Koziell, Ania A; Lungu, Adrian A; Rothe, Hansjorg Martin HM; Hoefele, Julia J; Zacchia, Miriam M; Martic, Tamara Nikuseva TN; Gupta, Asheeta A; van Eerde, Albertien A; Gear, Susie S; Landini, Samuela S; Palazzo, Viviana V; Al-Rabadi, Laith L; Claes, Kathleen K; Corveleyn, Anniek A; Van Hoof, Evelien E; van Geel, Micheel M; Williams, Maggie M; Ashton, Emma E; Belge, Hendica H; Ars, Elisabeth E; Bierzynska, Agnieszka A; Gangemi, Concetta C; Lipska-Ziętkiewicz, Beata S BS
Publication Date: 2021-08

Variant appearance in text: COL4A5: 1871G>A; Gly624Asp; rs104886142
PubMed Link: 33854215
Variant Present in the following documents:
  • Main text
  • 41431_2021_Article_858.pdf
View BVdb publication page



A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.

International Journal Of Molecular Sciences
Martín-Sánchez, Marta M; Bravo-Gil, Nereida N; González-Del Pozo, María M; Méndez-Vidal, Cristina C; Fernández-Suárez, Elena E; Rodríguez-de la Rúa, Enrique E; Borrego, Salud S; Antiñolo, Guillermo G
Publication Date: 2020-12-08

Variant appearance in text: COL4A5: Gly624Asp
PubMed Link: 33302505
Variant Present in the following documents:
  • Main text
  • ijms-21-09355.pdf
View BVdb publication page



Mutations in Collagen Genes in the Context of an Isolated Population.

Genes
Zupan, Andrej A; Matjašič, Alenka A; Grubelnik, Gašper G; Tasić, Velibor V; Momirovska, Ana A
Publication Date: 2020-11-20

Variant appearance in text: COL4A5: 1871G>A; Gly624Asp
PubMed Link: 33233744
Variant Present in the following documents:
  • Main text
  • genes-11-01377.pdf
View BVdb publication page



Phenotypic Spectrum of the Foveal Configuration and Foveal Avascular Zone in Patients With Alport Syndrome.

Investigative Ophthalmology & Visual Science
Hess, Kristina K; Pfau, Maximilian M; Wintergerst, Maximilian W M MWM; Loeffler, Karin U KU; Holz, Frank G FG; Herrmann, Philipp P
Publication Date: 2020-02-07

Variant appearance in text: COL4A5: 1871G>A
PubMed Link: 32031577
Variant Present in the following documents:
  • Main text
  • iovs-61-2-5.pdf
View BVdb publication page



The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome.

Frontiers In Pediatrics
Macheroux, Eva Pauline EP; Braunisch, Matthias C MC; Pucci Pegler, Stephanie S; Satanovskij, Robin R; Riedhammer, Korbinian M KM; Günthner, Roman R; Gross, Oliver O; Nagel, Mato M; Renders, Lutz L; Hoefele, Julia J
Publication Date: 2019

Variant appearance in text: COL4A5: 1871G>A; Gly624Asp
PubMed Link: 31850286
Variant Present in the following documents:
  • Main text
View BVdb publication page



New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.

European Journal Of Human Genetics : Ejhg
Daga, Sergio S; Donati, Francesco F; Capitani, Katia K; Croci, Susanna S; Tita, Rossella R; Giliberti, Annarita A; Valentino, Floriana F; Benetti, Elisa E; Fallerini, Chiara C; Niccheri, Francesca F; Baldassarri, Margherita M; Mencarelli, Maria Antonietta MA; Frullanti, Elisa E; Furini, Simone S; Conticello, Silvestro Giovanni SG; Renieri, Alessandra A; Pinto, Anna Maria AM
Publication Date: 2020-04

Variant appearance in text: COL4A5: 1871G>A; Gly624Asp
PubMed Link: 31754267
Variant Present in the following documents:
  • Main text
  • 41431_2019_Article_537.pdf
View BVdb publication page



Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: COL4A5: G624D
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



An overlap of Alport syndrome and rheumatoid arthritis in a patient and literature review.

Bmc Nephrology
Tang, Xiaofei X; Ding, Qiuling Q; Xu, Dong D; Yang, Songtao S; Xiao, Yuefei Y; Liu, Jian J
Publication Date: 2019-07-23

Variant appearance in text: COL4A5: G624D
PubMed Link: 31337345
Variant Present in the following documents:
  • Main text
  • 12882_2019_Article_1462.pdf
View BVdb publication page



Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.

Clinical Genetics
Kaseniit, Kristjan E KE; Collins, Elizabeth E; Lo, Christine C; Moyer, Krista K; Mar-Heyming, Rebecca R; Kang, Hyunseok P HP; Muzzey, Dale D
Publication Date: 2019-09

Variant appearance in text: COL4A5: 1871G>A
PubMed Link: 31170325
Variant Present in the following documents:
  • CGE-96-236-s003.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: COL4A5: 1871G>A; Gly624Asp
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Expanding opportunities and emerging challenges: broadening the scope of genetic testing in nephrology.

Kidney International
Groopman, Emily E EE; Gharavi, Ali G AG
Publication Date: 2019-04

Variant appearance in text: COL4A5: G624D
PubMed Link: 30904063
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome.

Molecular Genetics & Genomic Medicine
Zhang, Yanqin Y; Ding, Jie J; Zhang, Hongwen H; Yao, Yong Y; Xiao, Huijie H; Wang, Suxia S; Wang, Fang F
Publication Date: 2019-05

Variant appearance in text: COL4A5: Gly624Asp
PubMed Link: 30883042
Variant Present in the following documents:
  • Main text
View BVdb publication page



Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis.

International Journal Of Molecular Sciences
Frese, Jenny J; Kettwig, Matthias M; Zappel, Hildegard H; Hofer, Johannes J; Gröne, Hermann-Josef HJ; Nagel, Mato M; Sunder-Plassmann, Gere G; Kain, Renate R; Neuweiler, Jörg J; Gross, Oliver O
Publication Date: 2019-01-26

Variant appearance in text: COL4A5: 1871G>A; G624D
PubMed Link: 30691124
Variant Present in the following documents:
  • Main text
  • ijms-20-00519.pdf
View BVdb publication page



Acute kidney injury due to thin basement membrane disease mimicking Deferasirox nephrotoxicity: a case report.

Bmc Nephrology
Oda, Keiko K; Katayama, Kan K; Tanoue, Akiko A; Murata, Tomohiro T; Hirota, Yumi Y; Mizoguchi, Shoko S; Hirabayashi, Yosuke Y; Ito, Takayasu T; Ishikawa, Eiji E; Dohi, Kaoru K; Ito, Masaaki M
Publication Date: 2018-12-17

Variant appearance in text: COL4A5: G624D
PubMed Link: 30558557
Variant Present in the following documents:
  • 12882_2018_Article_1180.pdf
View BVdb publication page



The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: COL4A5: 1871G>A; G624D
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genotype and Outcome After Kidney Transplantation in Alport Syndrome.

Kidney International Reports
Gillion, Valentine V; Dahan, Karin K; Cosyns, Jean-Pierre JP; Hilbert, Pascale P; Jadoul, Michel M; Goffin, Eric E; Godefroid, Nathalie N; De Meyer, Martine M; Mourad, Michel M; Pirson, Yves Y; Kanaan, Nada N
Publication Date: 2018-05

Variant appearance in text: COL4A5: 1871G>A; Gly624Asp
PubMed Link: 29854973
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations.

Kidney International Reports
Wang, Dongmao D; Mohammad, Mardhiah M; Wang, Yanyan Y; Tan, Rachel R; Murray, Lydia S LS; Ricardo, Sharon S; Dagher, Hayat H; van Agtmael, Tom T; Savige, Judy J
Publication Date: 2017-07

Variant appearance in text: COL4A5: G624D
PubMed Link: 29142990
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: COL4A5: 1871G>A; Gly624Asp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

Plos One
Savige, Judith J; Storey, Helen H; Il Cheong, Hae H; Gyung Kang, Hee H; Park, Eujin E; Hilbert, Pascale P; Persikov, Anton A; Torres-Fernandez, Carmen C; Ars, Elisabet E; Torra, Roser R; Hertz, Jens Michael JM; Thomassen, Mads M; Shagam, Lev L; Wang, Dongmao D; Wang, Yanyan Y; Flinter, Frances F; Nagel, Mato M
Publication Date: 2016

Variant appearance in text: COL4A5: Gly624Asp
PubMed Link: 27627812
Variant Present in the following documents:
  • Main text
  • pone.0161802.pdf
View BVdb publication page



Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.

Plos One
Kovács, Gábor G; Kalmár, Tibor T; Endreffy, Emőke E; Ondrik, Zoltán Z; Iványi, Béla B; Rikker, Csaba C; Haszon, Ibolya I; Túri, Sándor S; Sinkó, Mária M; Bereczki, Csaba C; Maróti, Zoltán Z
Publication Date: 2016

Variant appearance in text: COL4A5: 1871G>A; Gly624Asp
PubMed Link: 26934356
Variant Present in the following documents:
  • Main text
  • pone.0149241.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: COL4A5: G624D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.

Pediatric Nephrology (Berlin, Germany)
Lennon, Rachel R; Stuart, Helen M HM; Bierzynska, Agnieszka A; Randles, Michael J MJ; Kerr, Bronwyn B; Hillman, Katherine A KA; Batra, Gauri G; Campbell, Joanna J; Storey, Helen H; Flinter, Frances A FA; Koziell, Ania A; Welsh, Gavin I GI; Saleem, Moin A MA; Webb, Nicholas J A NJ; Woolf, Adrian S AS
Publication Date: 2015-09

Variant appearance in text: COL4A5: G624D
PubMed Link: 25739341
Variant Present in the following documents:
  • 467_2015_Article_3067.pdf
View BVdb publication page



NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology
South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM
Publication Date: 2014-10

Variant appearance in text: COL4A5: G624D; rs104886142
PubMed Link: 24662767
Variant Present in the following documents:
  • NIHMS57574-supplement-data_tables.xlsx, sheet 2
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X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.

Hippokratia
Pierides, A A; Voskarides, K K; Kkolou, M M; Hadjigavriel, M M; Deltas, C C
Publication Date: 2013-07

Variant appearance in text: ATS: G624D
PubMed Link: 24470729
Variant Present in the following documents:
  • Main text
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Epistatic role of the MYH9/APOL1 region on familial hematuria genes.

Plos One
Voskarides, Konstantinos K; Demosthenous, Panayiota P; Papazachariou, Louiza L; Arsali, Maria M; Athanasiou, Yiannis Y; Zavros, Michalis M; Stylianou, Kostas K; Xydakis, Dimitris D; Daphnis, Eugenios E; Gale, Daniel P DP; Maxwell, Patrick H PH; Elia, Avraam A; Pattaro, Cristian C; Pierides, Alkis A; Deltas, Constantinos C
Publication Date: 2013

Variant appearance in text: COL4A5: G624D
PubMed Link: 23516419
Variant Present in the following documents:
  • Main text
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The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: COL4A5: 1871G>A; G624D; rs104886142
PubMed Link: 23334666
Variant Present in the following documents:
  • NIHMS474900-supplement-8.xlsx, sheet 1
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The role of molecular genetics in diagnosing familial hematuria(s).

Pediatric Nephrology (Berlin, Germany)
Deltas, Constantinos C; Pierides, Alkis A; Voskarides, Konstantinos K
Publication Date: 2012-08

Variant appearance in text: COL4A5: G624D
PubMed Link: 21688191
Variant Present in the following documents:
  • Main text
  • 467_2011_Article_1935.pdf
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Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.

Clinical Journal Of The American Society Of Nephrology : Cjasn
Tan, Rachel R; Colville, Deb D; Wang, Yan Yan YY; Rigby, Lin L; Savige, Judy J
Publication Date: 2010-01

Variant appearance in text: COL4A5: 1871G>A; G624D
PubMed Link: 19965530
Variant Present in the following documents:
  • Main text
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