Original source

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

C/G/T | Ancestral: C | Ambiguity code: B | MAF: < 0.01 (T)

Chromosome 16:3254380 (forward strand) | View in location tab


with COSMIC COSM1214873 (C/A), COSM970394 (C/T) ; HGMD-PUBLIC CM012151

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 46 HGVS names - Show

About this variant

This variant overlaps 30 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays