Variant ID: 1-55529042-G-A

NM_174936.3(PCSK9):c.1864G>A;(p.Val622Met)

This variant was identified in 1 publication



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar

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: PCSK9: 1864G>A
PMID: 15701167
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1864G>A p.Val622Met missense_variant,splice_region_variant 12/12 -
ENST00000490692.1 n.2410G>A - splice_region_variant,non_coding_transcript_exon_variant 8/8 -
ENST00000543384.1 c.*411G>A - splice_region_variant,3_prime_UTR_variant 10/10 -
NM_174936.4 c.1864G>A p.Val622Met missense_variant,splice_region_variant 12/12 -
NR_110451.1 n.1471G>A - splice_region_variant,non_coding_transcript_exon_variant 10/10 -