BRCA1 c.2423_2481del ;(p.F808Wfs*3)

Variant ID: 17-41245067-CTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAA-C

NM_007294.3(BRCA1):c.2423_2481del;(p.F808Wfs*3)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature.

Journal Of Human Genetics
Aref-Eshghi, Erfan E; McGee, Jacob D JD; Pedro, Victor P VP; Kerkhof, Jennifer J; Stuart, Alan A; Ainsworth, Peter J PJ; Lin, Hanxin H; Volodarsky, Michael M; McLachlin, Catherine Meg CM; Sadikovic, Bekim B
Publication Date: 2020-10

Variant appearance in text: BRCA1: 2423_2481del; Phe808Trpfs*3
PubMed Link: 32483276
Variant Present in the following documents:
  • Main text
  • 10038_2020_Article_780.pdf
View BVdb publication page