Original source

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

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

Chromosome 12:52287145 (forward strand) | View in location tab


with COSMIC COSM3812304 (C/T) ; HGMD-PUBLIC CM981149 ; PhenCode HIFD_KRT81:c.1204G>A (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 8 transcripts, 2 regulatory features, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays