PCSK7 c.658C>T ;(p.P220S)

Variant ID: 11-117097984-G-A

NM_004716.2(PCSK7):c.658C>T;(p.P220S)

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:

Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population.

Plos One
Tang, Liang L; Guo, Tao T; Yang, Rui R; Mei, Heng H; Wang, Huafang H; Lu, Xuan X; Yu, Jianming J; Wang, Qingyun Q; Hu, Yu Y
Publication Date: 2012

Variant appearance in text: PC7: 658C>T
PubMed Link: 22545135
Variant Present in the following documents:
  • Main text
View BVdb publication page