BRCA1 c.5505A>C ;(p.R1835=)

Variant ID: 17-41197782-T-G

NM_007294.3(BRCA1):c.5505A>C;(p.R1835=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.

Bmc Cancer
Lai, Zhongwu Z; Brosnan, Matthew M; Sokol, Ethan S ES; Xie, Mingchao M; Dry, Jonathan R JR; Harrington, Elizabeth A EA; Barrett, J Carl JC; Hodgson, Darren D
Publication Date: 2022-01-03

Variant appearance in text: BRCA1: R1835R
PubMed Link: 34979999
Variant Present in the following documents:
  • 12885_2021_9082_MOESM1_ESM.pdf
View BVdb publication page



Accurate classification of BRCA1 variants with saturation genome editing.

Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10

Variant appearance in text: BRCA1: 5505A>C; R1835=
PubMed Link: 30209399
Variant Present in the following documents:
  • NIHMS1501643-supplement-2.xlsx, sheet 1
View BVdb publication page