Original source

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

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

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


with COSMIC COSM431072 (G/A), COSM431073 (G/A) ; HGMD-PUBLIC CM057191

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

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