BRCA1 c.5194-1244T>G

Variant ID: 17-41210396-A-C

NM_007294.3(BRCA1):c.5194-1244T>G

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.

Jama Network Open
Yang, Wenjian W; Karol, Seth E SE; Hoshitsuki, Keito K; Lee, Shawn S; Larsen, Eric C EC; Winick, Naomi N; Carroll, William L WL; Loh, Mignon L ML; Raetz, Elizabeth A EA; Hunger, Stephen P SP; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Devidas, Meenakshi M; Relling, Mary V MV; Yang, Jun J JJ
Publication Date: 2022-12-01

Variant appearance in text: rs8176279
PubMed Link: 36580335
Variant Present in the following documents:
  • jamanetwopen-e2248803-s001.pdf
View BVdb publication page



Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.

Nature Communications
Chen, Vincent L VL; Du, Xiaomeng X; Chen, Yanhua Y; Kuppa, Annapurna A; Handelman, Samuel K SK; Vohnoutka, Rishel B RB; Peyser, Patricia A PA; Palmer, Nicholette D ND; Bielak, Lawrence F LF; Halligan, Brian B; Speliotes, Elizabeth K EK
Publication Date: 2021-02-05

Variant appearance in text: rs8176279
PubMed Link: 33547301
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_20870.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: BRCA1: 5194-1244T>G; rs8176279
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.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: rs8176279
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing.

Bmc Genomics
Elsharawy, Abdou A; Forster, Michael M; Schracke, Nadine N; Keller, Andreas A; Thomsen, Ingo I; Petersen, Britt-Sabina BS; Stade, Björn B; Stähler, Peer P; Schreiber, Stefan S; Rosenstiel, Philip P; Franke, Andre A
Publication Date: 2012-08-22

Variant appearance in text: rs8176279
PubMed Link: 22913592
Variant Present in the following documents:
  • 1471-2164-13-417-S1.pdf
View BVdb publication page