Original source

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

C/A/T | Ancestral: C | Ambiguity code: H | MAF: 0.15 (A)

Chromosome 6:6318562 (forward strand) | View in location tab


with COSMIC COSM3762153 (C/A) ; HGMD-PUBLIC CM950376

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 18 HGVS names - Show

Genotyping chips

This variant has assays on 12 chips - Show

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature, has 3868 sample genotypes, is associated with 4 phenotypes and is mentioned in 17 citations.

Variant displays