Original source

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

T/C | Ancestral: C | Ambiguity code: Y | MAF: 0.35 (C)

Chromosome 17:43091983 (forward strand) | View in location tab


with COSMIC COSM148277 (T/C), COSM3755561 (T/C) ; HGMD-PUBLIC CM058359

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 23 HGVS names - Show

Genotyping chips

This variant has assays on 10 chips - Show

About this variant

This variant overlaps 25 transcripts, has 4476 sample genotypes, is associated with 5 phenotypes and is mentioned in 17 citations.

Variant displays