Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.13 (T)

Chromosome 17:40822210 (forward strand) | View in location tab


with COSMIC COSM1128722 (C/T) ; PhenCode HIFD_KRT10:c.376G>A (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 5 transcripts, has 2505 sample genotypes and is associated with 1 phenotype.

Variant displays