LDLRAP1 c.739G>C ;(p.V247L)

Variant ID: 1-25890274-G-C

NM_015627.2(LDLRAP1):c.739G>C;(p.V247L)

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:

Familial hypercholesterolaemia.

The Clinical Biochemist. Reviews
Marais, A David AD
Publication Date: 2004-02

Variant appearance in text: ARH: V247L
PubMed Link: 18516203
Variant Present in the following documents:
  • Main text
View BVdb publication page