Variant ID: 1-55518385-C-T

NM_174936.3(PCSK9):c.720C>T;(p.G240=)

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:

Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH Registry?

Indian Heart Journal
Reddy, Lakshmi Lavanya LL; Shah, Swarup A V SAV; Ashavaid, Tester F TF
Publication Date: 2021-12-04

Variant appearance in text: PCSK9: 720C>T
PubMed Link: 34875256
Variant Present in the following documents:
  • main.pdf
View BVdb publication page