COL4A5 c.5048G>A ;(p.R1683Q)

Variant ID: X-107939580-G-A

NM_033380.2(COL4A5):c.5048G>A;(p.R1683Q)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: 5048G>A; Arg1683Gln
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
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: 5048G>A
PubMed Link: 36100708
Variant Present in the following documents:
  • 41431_2022_Article_1177.pdf
View BVdb publication page



Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

Annals Of Internal Medicine
Lata, Sneh S; Marasa, Maddalena M; Li, Yifu Y; Fasel, David A DA; Groopman, Emily E; Jobanputra, Vaidehi V; Rasouly, Hila H; Mitrotti, Adele A; Westland, Rik R; Verbitsky, Miguel M; Nestor, Jordan J; Slater, Lindsey M LM; D'Agati, Vivette V; Zaniew, Marcin M; Materna-Kiryluk, Anna A; Lugani, Francesca F; Caridi, Gianluca G; Rampoldi, Luca L; Mattoo, Aditya A; Newton, Chad A CA; Rao, Maya K MK; Radhakrishnan, Jai J; Ahn, Wooin W; Canetta, Pietro A PA; Bomback, Andrew S AS; Appel, Gerald B GB; Antignac, Corinne C; Markowitz, Glen S GS; Garcia, Christine K CK; Kiryluk, Krzysztof K; Sanna-Cherchi, Simone S; Gharavi, Ali G AG
Publication Date: 2018-01-16

Variant appearance in text: rs104886308
PubMed Link: 29204651
Variant Present in the following documents:
  • Main text
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: Arg1683Gln
PubMed Link: 27627812
Variant Present in the following documents:
  • Main text
  • pone.0161802.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: COL4A5: R1683Q
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page