ABCC4 c.531+10A>G

Variant ID: 13-95886854-T-C

NM_005845.3(ABCC4):c.531+10A>G

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs11568637
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs11568637
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Population-Specific Resequencing Associates the ATP-Binding Cassette Subfamily C Member 4 Gene With Gout in New Zealand Māori and Pacific Men.

Arthritis & Rheumatology (Hoboken, N.J.)
Tanner, Callum C; Boocock, James J; Stahl, Eli A EA; Dobbyn, Amanda A; Mandal, Asim K AK; Cadzow, Murray M; Phipps-Green, Amanda J AJ; Topless, Ruth K RK; Hindmarsh, Jennie Harré JH; Stamp, Lisa K LK; Dalbeth, Nicola N; Choi, Hyon K HK; Mount, David B DB; Merriman, Tony R TR
Publication Date: 2017-07

Variant appearance in text: rs11568637
PubMed Link: 28371506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: rs11568637
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



The human multidrug resistance protein 4 (MRP4, ABCC4): functional analysis of a highly polymorphic gene.

The Journal Of Pharmacology And Experimental Therapeutics
Abla, Nada N; Chinn, Leslie W LW; Nakamura, Tsutomu T; Liu, Li L; Huang, Conrad C CC; Johns, Susan J SJ; Kawamoto, Michiko M; Stryke, Doug D; Taylor, Travis R TR; Ferrin, Thomas E TE; Giacomini, Kathleen M KM; Kroetz, Deanna L DL
Publication Date: 2008-06

Variant appearance in text: rs11568637
PubMed Link: 18364470
Variant Present in the following documents:
  • Main text
View BVdb publication page