Original source

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

T/A/C | Ancestral: C | Ambiguity code: H | MAF: 0.26 (T)

Chromosome 12:6347896 (forward strand) | View in location tab


with COSMIC COSM1747194 (T/C) ; HGMD-PUBLIC CM994637

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on 12 chips - Show

About this variant

This variant overlaps 18 transcripts, 1 regulatory feature, has 2952 sample genotypes, is associated with 1 phenotype and is mentioned in 14 citations.

Variant displays