Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.08 (T)

Chromosome 6:111592059 (forward strand) | View in location tab


with COSMIC COSM3736398 (C/T) ; HGMD-PUBLIC CM107202

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature, has 2543 sample genotypes, is associated with 5 phenotypes and is mentioned in 15 citations.

Variant displays