Variant ID: 1-55523080-G-A


This variant was identified in 1 publication


Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal Of Medical Genetics
SE Humphries, RA Whittall, CS Hubbart, S Maplebeck, JA Cooper, AK Soutar, R Naoumova, GR Thompson, M Seed, PN Durrington, JP Miller, DJ Betteridge, HA Neil,
Publication Date: 2006-12

Variant appearance in text: PCSK9: C358Y
PubMed Link: 17142622
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1073G>A p.Cys358Tyr missense_variant 7/12 -
ENST00000490692.1 n.1818-21G>A - intron_variant,non_coding_transcript_variant - 3/7
ENST00000543384.1 c.473G>A p.Cys158Tyr missense_variant 5/10 -
NM_174936.4 c.1073G>A p.Cys358Tyr missense_variant 7/12 -
NR_110451.1 n.732G>A - non_coding_transcript_exon_variant 5/10 -