LDLR c.799G>T ;(p.E267*)

Variant ID: 19-11217345-G-T

NM_000527.4(LDLR):c.799G>T;(p.E267*)

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: E267X
PubMed Link: 33994402
Variant Present in the following documents:
  • jat-29-639.pdf
View BVdb publication page