Variant ID: 1-55505732-A-G


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: rs2495482
PMID: 17142622
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.207+15A>G - intron_variant - 1/11
ENST00000452118.2 c.207+15A>G - intron_variant - 1/5
NM_174936.4 c.207+15A>G - intron_variant - 1/11