BRCA1 c.4158C>A ;(p.S1386=)

Variant ID: 17-41242988-G-T

NM_007294.3(BRCA1):c.4158C>A;(p.S1386=)

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:

Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

Cancer Research And Treatment
Park, Ji Soo JS; Nam, Eun Ji EJ; Park, Hyung Seok HS; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Jieun J; Kim, Tae Il TI; Lee, Seung-Tae ST
Publication Date: 2017-10

Variant appearance in text: BRCA1: S1386=
PubMed Link: 28111427
Variant Present in the following documents:
  • crt-2016-433.pdf
View BVdb publication page