BRCA2 c.5164_5165delinsTA ;(p.S1722Y)

Variant ID: 13-32913656-AG-TA

NM_000059.3(BRCA2):c.5164_5165delinsTA;(p.S1722Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: BRCA2: S1722Y
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.

Plos One
Kwong, Ava A; Ng, Enders Kai On EK; Wong, Chris Lei Po CL; Law, Fian Bic Fai FB; Au, Tommy T; Wong, Hong Nei HN; Kurian, Allison W AW; West, Dee W DW; Ford, James M JM; Ma, Edmond Siu Kwan ES
Publication Date: 2012

Variant appearance in text: BRCA2: S1722Y
PubMed Link: 22970155
Variant Present in the following documents:
  • Main text
View BVdb publication page