Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.33 (T)

Chromosome 8:132971813 (forward strand) | View in location tab


with COSMIC COSM3982409 (C/T) ; HGMD-PUBLIC CM035973

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 7 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 11 transcripts, has 4072 sample genotypes, is associated with 2 phenotypes and is mentioned in 4 citations.

Variant displays