BRCA1 c.4129_4130del ;(p.S1377Rfs*3)

Variant ID: 17-41243016-GCT-G

NM_007294.3(BRCA1):c.4129_4130del;(p.S1377Rfs*3)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer.

Scientific Reports
Hartman, Tiffiney R TR; Demidova, Elena V EV; Lesh, Randy W RW; Hoang, Lily L; Richardson, Marcy M; Forman, Andrea A; Kessler, Lisa L; Speare, Virginia V; Golemis, Erica A EA; Hall, Michael J MJ; Daly, Mary B MB; Arora, Sanjeevani S
Publication Date: 2020-08-11

Variant appearance in text: BRCA1: S1377Rfs*3
PubMed Link: 32782288
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_70449.pdf
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