Original source

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

C/A/T | Ancestral: C | Ambiguity code: H | MAF: 0.01 (A)

Chromosome 11:116790676 (forward strand) | View in location tab


with COSMIC COSM686256 (C/T) ; HGMD-PUBLIC CM032546

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on 9 chips - Show

About this variant

This variant overlaps 22 transcripts, has 3332 sample genotypes, is associated with 2 phenotypes and is mentioned in 27 citations.

Variant displays