BRCA2 c.1760_1761inv ;(p.T587M)

Variant ID: 13-32907375-CA-TG

NM_000059.3(BRCA2):c.1760_1761inv;(p.T587M)

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:

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Journal Of Medical Genetics
Pontén, Emeli E; Frisk, Sofia S; Taylan, Fulya F; Vaz, Raquel R; Wessman, Sandra S; de Kock, Leanne L; Pal, Niklas N; Foulkes, William D WD; Lagerstedt-Robinson, Kristina K; Nordgren, Ann A
Publication Date: 2022-02

Variant appearance in text: BRCA2: Thr587Met
PubMed Link: 33208384
Variant Present in the following documents:
  • jmedgenet-2020-107385supp001.pdf
View BVdb publication page


A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Journal Of Medical Genetics
Pontén, Emeli E; Frisk, Sofia S; Taylan, Fulya F; Vaz, Raquel R; Wessman, Sandra S; de Kock, Leanne L; Pal, Niklas N; Foulkes, William D WD; Lagerstedt-Robinson, Kristina K; Nordgren, Ann A
Publication Date: 2020-11-18

Variant appearance in text: BRCA2: Thr587Met
PubMed Link: 33208384
Variant Present in the following documents:
  • jmedgenet-2020-107385supp001.pdf
View BVdb publication page