Original source

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

C/T | Ancestral: T | Ambiguity code: Y | MAF: 0.47 (C)

Chromosome 13:51949672 (forward strand) | View in location tab


with COSMIC COSM147691 (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 8 synonyms - Show

HGVS names

This variant has 13 HGVS names - Show

Genotyping chips

This variant has assays on 9 chips - Show

About this variant

This variant overlaps 8 transcripts, has 4271 sample genotypes, is associated with 2 phenotypes and is mentioned in 4 citations.

Variant displays