Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W|MAF: 0.29 (A)
Location

Chromosome 12:40320099 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM104616

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 5 HGVS names - Hide

12:g.40320099T>A
ENST00000479187.5:n.1620T>A
ENST00000298910.11:c.4939T>A
ENSP00000298910.7:p.Ser1647Thr
ENST00000430804.5:c.*1612T>A

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 4 transcripts, has 3119 sample genotypes, is associated with 1 phenotype and is mentioned in 12 citations.

Variant displays