Variant ID: 1-55523798-A-G

NM_174936.3(PCSK9):c.1270A>G;(p.Ile424Val)

This variant was identified in 1 publication



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

Publications:

Genetic variants in PCSK9 affect the cholesterol level in Japanese.

Journal Of Human Genetics
K Shioji, T Mannami, Y Kokubo, N Inamoto, S Takagi, Y Goto, H Nonogi, N Iwai
Publication Date: 2004

Variant appearance in text: PCSK9: I424V
PubMed Link: 14727156
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1270A>G p.Ile424Val missense_variant 8/12 -
ENST00000490692.1 n.1994A>G - non_coding_transcript_exon_variant 5/8 -
ENST00000543384.1 c.670A>G p.Ile224Val missense_variant 6/10 -
NM_174936.4 c.1270A>G p.Ile424Val missense_variant 8/12 -
NR_110451.1 n.929A>G - non_coding_transcript_exon_variant 6/10 -