CFHR5 c.136C>T ;(p.P46S)

Variant ID: 1-196952092-C-T

NM_030787.3(CFHR5):c.136C>T;(p.P46S)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: CFHR5: 136C>T; Pro46Ser
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy.

Frontiers In Immunology
Garam, Nóra N; Cserhalmi, Marcell M; Prohászka, Zoltán Z; Szilágyi, Ágnes Á; Veszeli, Nóra N; Szabó, Edina E; Uzonyi, Barbara B; Iliás, Attila A; Aigner, Christof C; Schmidt, Alice A; Gaggl, Martina M; Sunder-Plassmann, Gere G; Bajcsi, Dóra D; Brunner, Jürgen J; Dumfarth, Alexandra A; Cejka, Daniel D; Flaschberger, Stefan S; Flögelova, Hana H; Haris, Ágnes Á; Hartmann, Ágnes Á; Heilos, Andreas A; Mueller, Thomas T; Rusai, Krisztina K; Arbeiter, Klaus K; Hofer, Johannes J; Jakab, Dániel D; Sinkó, Mária M; Szigeti, Erika E; Bereczki, Csaba C; Janko, Viktor V; Kelen, Kata K; Reusz, György S GS; Szabó, Attila J AJ; Klenk, Nóra N; Kóbor, Krisztina K; Kojc, Nika N; Knechtelsdorfer, Maarten M; Laganovic, Mario M; Lungu, Adrian Catalin AC; Meglic, Anamarija A; Rus, Rina R; Kersnik Levart, Tanja T; Macioniene, Ernesta E; Miglinas, Marius M; Pawłowska, Anna A; Stompór, Tomasz T; Podracka, Ludmila L; Rudnicki, Michael M; Mayer, Gert G; Rysava, Romana R; Reiterova, Jana J; Saraga, Marijan M; Seeman, Tomáš T; Zieg, Jakub J; Sládková, Eva E; Stajic, Natasa N; Szabó, Tamás T; Capitanescu, Andrei A; Stancu, Simona S; Tisljar, Miroslav M; Galesic, Kresimir K; Tislér, András A; Vainumäe, Inga I; Windpessl, Martin M; Zaoral, Tomas T; Zlatanova, Galia G; Józsi, Mihály M; Csuka, Dorottya D
Publication Date: 2021

Variant appearance in text: CFHR5: P46S
PubMed Link: 34566977
Variant Present in the following documents:
  • Main text
  • fimmu-12-720183.pdf
View BVdb publication page



Additional eculizumab dose and tacrolimus discontinuation for treatment of COVID-19 in a kidney transplant recipient with aHUS.

Therapeutic Apheresis And Dialysis : Official Peer-Reviewed Journal Of The International Society For Apheresis, The Japanese Society For Apheresis, The Japanese Society For Dialysis Therapy
Bašić-Jukić, Nikolina N; Atić, Armin A
Publication Date: 2022-02

Variant appearance in text: CFHR5: P46S
PubMed Link: 34272820
Variant Present in the following documents:
  • Main text
  • TAP-9999-.pdf
View BVdb publication page



Additional eculizumab dose and tacrolimus discontinuation for treatment of COVID-19 in a kidney transplant recipient with aHUS.

Therapeutic Apheresis And Dialysis : Official Peer-Reviewed Journal Of The International Society For Apheresis, The Japanese Society For Apheresis, The Japanese Society For Dialysis Therapy
Bašić-Jukić, Nikolina N; Atić, Armin A
Publication Date: 2021-07-17

Variant appearance in text: CFHR5: P46S
PubMed Link: 34272820
Variant Present in the following documents:
  • Main text
  • TAP-9999-.pdf
View BVdb publication page



Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.

American Journal Of Human Genetics
Lorés-Motta, Laura L; van Beek, Anna E AE; Willems, Esther E; Zandstra, Judith J; van Mierlo, Gerard G; Einhaus, Alfred A; Mary, Jean-Luc JL; Stucki, Corinne C; Bakker, Bjorn B; Hoyng, Carel B CB; Fauser, Sascha S; Clark, Simon J SJ; de Jonge, Marien I MI; Nogoceke, Everson E; Koertvely, Elod E; Jongerius, Ilse I; Kuijpers, Taco W TW; den Hollander, Anneke I AI
Publication Date: 2021-08-05

Variant appearance in text: FHR-5: Pro46Ser
PubMed Link: 34260947
Variant Present in the following documents:
  • mmc3.pdf
View BVdb publication page



Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

Jama Network Open
McCreary, Dara D; Omoyinmi, Ebun E; Hong, Ying Y; Mulhern, Ciara C; Papadopoulou, Charalampia C; Casimir, Marina M; Hacohen, Yael Y; Nyanhete, Rodney R; Ahlfors, Helena H; Cullup, Thomas T; Lim, Ming M; Gilmour, Kimberly K; Mankad, Kshitij K; Wassmer, Evangeline E; Berg, Stefan S; Hemingway, Cheryl C; Brogan, Paul P; Eleftheriou, Despina D
Publication Date: 2019-10-02

Variant appearance in text: CFHR5: 136C>T
PubMed Link: 31664448
Variant Present in the following documents:
  • jamanetwopen-2-e1914274-s001.pdf
View BVdb publication page



A case report of a child with sepsis induced multiorgan failure and massive complement consumption treated with a short course of Eculizumab: A case of crosstalk between coagulation and complement?

Medicine
Galic, Slobodan S; Csuka, Dorottya D; Prohászka, Zoltán Z; Turudic, Daniel D; Dzepina, Petra P; Milosevic, Danko D
Publication Date: 2019-01

Variant appearance in text: CFHR5: 136C>T; P46S
PubMed Link: 30681570
Variant Present in the following documents:
  • Main text
  • medi-98-e14105.pdf
View BVdb publication page



A rare case of Alport syndrome, atypical hemolytic uremic syndrome and Pauci-immune crescentic glomerulonephritis.

Bmc Nephrology
Tao, Jianling J; Lieberman, Jonathan J; Lafayette, Richard A RA; Kambham, Neeraja N
Publication Date: 2018-12-12

Variant appearance in text: CFHR5: 136C>T; Pro46Ser
PubMed Link: 30541482
Variant Present in the following documents:
  • Main text
View BVdb publication page



Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Journal Of Immunology (Baltimore, Md. : 1950)
Osborne, Amy J AJ; Breno, Matteo M; Borsa, Nicolo Ghiringhelli NG; Bu, Fengxiao F; Frémeaux-Bacchi, Véronique V; Gale, Daniel P DP; van den Heuvel, Lambertus P LP; Kavanagh, David D; Noris, Marina M; Pinto, Sheila S; Rallapalli, Pavithra M PM; Remuzzi, Giuseppe G; Rodríguez de Cordoba, Santiago S; Ruiz, Angela A; Smith, Richard J H RJH; Vieira-Martins, Paula P; Volokhina, Elena E; Wilson, Valerie V; Goodship, Timothy H J THJ; Perkins, Stephen J SJ
Publication Date: 2018-04-01

Variant appearance in text: FHR5: 136C>T
PubMed Link: 29500241
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: CFHR5: P46S; rs12097550
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: CFHR5: P46S; rs12097550
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs12097550
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: CFHR5: P46S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: CFHR5: P46S; rs12097550
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration.

Molecular Vision
Narendra, Umadevi U; Pauer, Gayle J T GJ; Hagstrom, Stephanie A SA
Publication Date: 2009

Variant appearance in text: CFHR5: P46S
PubMed Link: 19365580
Variant Present in the following documents:
  • Main text
  • mv-v15-731.pdf
View BVdb publication page



Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).

Journal Of Medical Genetics
Abrera-Abeleda, M A MA; Nishimura, C C; Smith, J L H JL; Sethi, S S; McRae, J L JL; Murphy, B F BF; Silvestri, G G; Skerka, C C; Józsi, M M; Zipfel, P F PF; Hageman, G S GS; Smith, R J H RJ
Publication Date: 2006-07

Variant appearance in text: CFHR5: P46S; rs12097550
PubMed Link: 16299065
Variant Present in the following documents:
  • Main text
View BVdb publication page