LDLR c.536A>C ;(p.E179A)

Variant ID: 19-11216118-A-C

NM_000527.4(LDLR):c.536A>C;(p.E179A)

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 Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis
Huang, Chin-Chou CC; Niu, Dau-Ming DM; Charng, Min-Ji MJ
Publication Date: 2022-05-01

Variant appearance in text: LDLR: E179A
PubMed Link: 33994402
Variant Present in the following documents:
  • jat-29-639.pdf
View BVdb publication page