Variant ID: 1-55518410-A-T

NM_174936.3(PCSK9):c.745A>T;(p.S249C)

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:

CRISPR/Cas therapeutic strategies for autosomal dominant disorders.

The Journal Of Clinical Investigation
Caruso, Salvatore Marco SM; Quinn, Peter Mj PM; da Costa, Bruna Lopes BL; Tsang, Stephen H SH
Publication Date: 2022-05-02

Variant appearance in text: PCSK9: S249C
PubMed Link: 35499084
Variant Present in the following documents:
  • jci-132-158287.pdf
View BVdb publication page