Variant ID: 1-55529194-G-C

NM_174936.3(PCSK9):c.2016G>C;(p.V672=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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