Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.16 (T)
Location

Chromosome 3:165773492 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM920127

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 8 synonyms - Show

HGVS names

This variant has 7 HGVS names - Hide

3:g.165773492C>T
ENST00000482958.1:c.*205G>A
ENST00000264381.7:c.1699G>A
ENSP00000264381.3:p.Ala567Thr
ENST00000479451.5:c.289G>A
ENSP00000418325.1:p.Ala97Thr
ENST00000497011.5:c.*89G>A

Genotyping chips

This variant has assays on 9 chips - Show

About this variant

This variant overlaps 5 transcripts, has 3278 sample genotypes, is associated with 5 phenotypes and is mentioned in 16 citations.

Variant displays