BRCA2 c.120A>T ;(p.P40=)

Variant ID: 13-32893266-A-T

NM_000059.3(BRCA2):c.120A>T;(p.P40=)

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:

Estimating penetrance from multiple case families with predisposing mutations: extension of the 'genotype-restricted likelihood' (GRL) method.

European Journal Of Human Genetics : Ejhg
Bonaïti, Bernard B; Bonadona, Valérie V; Perdry, Hervé H; Andrieu, Nadine N; Bonaïti-Pellié, Catherine C
Publication Date: 2011-02

Variant appearance in text: BRCA2: P40=
PubMed Link: 20924409
Variant Present in the following documents:
  • Main text
View BVdb publication page