Variant ID: 1-25890274-G-C

NM_015627.2(LDLRAP1):c.739G>C;(p.Val247Leu)

This variant was identified in 1 publication




Publications:


Familial hypercholesterolaemia.

The Clinical Biochemist. Reviews
AD Marais
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



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000374338.4 c.739G>C p.Val247Leu missense_variant 7/9 -
ENST00000474283.1 n.150G>C - non_coding_transcript_exon_variant 1/3 -
ENST00000484476.1 n.461G>C - non_coding_transcript_exon_variant 2/4 -
ENST00000488127.1 n.1209G>C - non_coding_transcript_exon_variant 6/7 -
NM_015627.3 c.739G>C p.Val247Leu missense_variant 7/9 -