Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M|MAF: 0.26 (A)
Location

Chromosome 1:46405089 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM023913

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 5 HGVS names - Hide

1:g.46405089C>A
ENST00000468718.5:n.405C>A
ENST00000493735.5:n.363C>A
ENST00000243167.8:c.385C>A
ENSP00000243167.8:p.Pro129Thr

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature, has 4084 sample genotypes, is associated with 2 phenotypes and is mentioned in 54 citations.

Variant displays