Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.13 (T)

Chromosome 5:132340627 (forward strand) | View in location tab


with COSMIC COSM3736366 (C/T) ; HGMD-PUBLIC CM041074

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on 13 chips - Show

About this variant

This variant overlaps 3 transcripts, has 3819 sample genotypes, is associated with 3 phenotypes and is mentioned in 33 citations.

Variant displays