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

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.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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, sheet 3
View BVdb publication page


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, sheet 3
View BVdb publication page