Variant ID: 1-55524209-C-G

NM_174936.3(PCSK9):c.1392C>G;(p.His464Gln)

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:

Familial hypercholesterolaemia in Portugal.

Atherosclerosis
M Bourbon, AC Alves, AM Medeiros, S Silva, AK Soutar,
Publication Date: 2008-02

Variant appearance in text: PCSK9: H464Q
PubMed Link: 17765246
Variant Present in the following documents:
  • Supplemental file
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1392C>G p.His464Gln missense_variant 9/12 -
ENST00000490692.1 n.2116C>G - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.740C>G p.Thr247Ser missense_variant 7/10 -
NM_174936.4 c.1392C>G p.His464Gln missense_variant 9/12 -
NR_110451.1 n.999C>G - non_coding_transcript_exon_variant 7/10 -