LDLR c.2088C>A ;(p.C696*)

Variant ID: 19-11231146-C-A

NM_000527.4(LDLR):c.2088C>A;(p.C696*)

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 Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics
Huang, Chin-Chou CC; Charng, Min-Ji MJ
Publication Date: 2020

Variant appearance in text: LDLR: 2088C>A; C696X
PubMed Link: 32793292
Variant Present in the following documents:
  • Main text
  • fgene-11-00833.pdf
View BVdb publication page