Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y|MAF: < 0.01 (C)
Location

Chromosome 2:162268127 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM091739

Most severe consequence
 
Missense variant
Evidence status

HGVS names

This variant has 3 HGVS names - Hide

2:g.162268127T>C
ENST00000263642.2:c.2767A>G
ENSP00000263642.2:p.Ile923Val

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 1 transcript, has 2527 sample genotypes and is mentioned in 15 citations.

Variant displays