HR c.888G>A ;(p.G296=)

Variant ID: 8-21985067-C-T

NM_005144.4(HR):c.888G>A;(p.G296=)

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:

Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Journal Of The American Heart Association
Doi, Takahito T; Hori, Mika M; Harada-Shiba, Mariko M; Kataoka, Yu Y; Onozuka, Daisuke D; Nishimura, Kunihiro K; Nishikawa, Ryo R; Tsuda, Kosuke K; Ogura, Masatsune M; Son, Cheol C; Miyamoto, Yoshihiro Y; Noguchi, Teruo T; Shimokawa, Hiroaki H; Yasuda, Satoshi S
Publication Date: 2021-02-16

Variant appearance in text: HR: 888G>A
PubMed Link: 33533259
Variant Present in the following documents:
  • JAH3-10-e018263.pdf
View BVdb publication page