Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome 12:40340404 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM043520

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 5 HGVS names - Hide

12:g.40340404T>C
ENST00000479187.5:n.2740T>C
ENST00000298910.11:c.6059T>C
ENSP00000298910.7:p.Ile2020Thr
ENST00000430804.5:c.*2732T>C

Genotyping chips

This variant has assays on: Illumina_ImmunoChip

About this variant

This variant overlaps 3 transcripts, has 2 sample genotypes, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays