Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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

with HGMD-PUBLIC CM023913

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to show

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

This variant has assays on 11 chips - click the plus to 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 50 citations.

Variant displays