Original source

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

G/A/C | Ancestral: G | Ambiguity code: V | MAF: 0.06 (C)

Chromosome 11:116791691 (forward strand) | View in location tab


with COSMIC COSM1351468 (G/A), COSM3979146 (G/C) ; HGMD-PUBLIC CM023881

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 20 transcripts, 2 regulatory features, has 2816 sample genotypes, is associated with 2 phenotypes and is mentioned in 78 citations.

Variant displays