BRCA2 c.8001C>T ;(p.S2667=)

Variant ID: 13-32937340-C-T

NM_000059.3(BRCA2):c.8001C>T;(p.S2667=)

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:

Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

Plos Genetics
Fraile-Bethencourt, Eugenia E; Díez-Gómez, Beatriz B; Velásquez-Zapata, Valeria V; Acedo, Alberto A; Sanz, David J DJ; Velasco, Eladio A EA
Publication Date: 2017-03

Variant appearance in text: BRCA2: 8001C>T
PubMed Link: 28339459
Variant Present in the following documents:
  • Main text
  • pgen.1006691.pdf
View BVdb publication page