Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: < 0.01 (A)
Location

Chromosome 12:40363526 (forward strand)|View in location tab

Co-located variants

COSMIC COSM431073, COSM431072 ; HGMD-PUBLIC CM057191

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 5 HGVS names - Hide

12:g.40363526G>A
ENST00000479187.5:n.3834G>A
ENST00000298910.11:c.7153G>A
ENSP00000298910.7:p.Gly2385Arg
ENST00000430804.5:c.*3826G>A

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 3 transcripts, has 2506 sample genotypes, is associated with 3 phenotypes and is mentioned in 11 citations.

Variant displays