Variant ID: 1-25883687-G-C

NM_015627.2(LDLRAP1):c.388G>C;(p.Ala130Pro)

This variant was identified in 1 publication




Publications:


Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Bmc Medical Genetics
FM Zakharova, D Damgaard, MY Mandelshtam, VI Golubkov, PH Nissen, GG Nilsen, A Stenderup, BM Lipovetsky, VO Konstantinov, AD Denisenko, VB Vasilyev, O Faergeman
Publication Date: 2005-02-08

Variant appearance in text: ARH: A130P
PubMed Link: 15701167
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000374338.4 c.388G>C p.Ala130Pro missense_variant 4/9 -
ENST00000462394.1 n.136G>C - non_coding_transcript_exon_variant 2/2 -
ENST00000488127.1 n.858G>C - non_coding_transcript_exon_variant 3/7 -
NM_015627.3 c.388G>C p.Ala130Pro missense_variant 4/9 -