Variant ID: 1-25890217-G-T

NM_015627.2(LDLRAP1):c.682G>T;(p.Ala228Ser)

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: 682G>T
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.682G>T p.Ala228Ser missense_variant 7/9 -
ENST00000474283.1 n.93G>T - non_coding_transcript_exon_variant 1/3 -
ENST00000484476.1 n.404G>T - non_coding_transcript_exon_variant 2/4 -
ENST00000488127.1 n.1152G>T - non_coding_transcript_exon_variant 6/7 -
NM_015627.3 c.682G>T p.Ala228Ser missense_variant 7/9 -