Variant ID: 1-55529194-G-C


This variant was identified in 1 publication

View GRCh38 version.


Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Plos One
Ozgencil, Meryem M; Barwell, Julian J; Tischkowitz, Marc M; Izatt, Louise L; Kesterton, Ian I; Simpson, Michael M; Sharpe, Paul P; de Sepulveda, Paulo P; Voisset, Edwige E; Solomon, Ellen E
Publication Date: 2021

Variant appearance in text: PCSK9: V672V
PubMed Link: 34855882
Variant Present in the following documents:
  • pone.0260852.s015.xlsx
View BVdb publication page