Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

C/T | Ambiguity code: Y

Chromosome 12:52287112 (forward strand) | View in location tab


with COSMIC COSM162065 (C/T) ; HGMD-PUBLIC CM970851 ; PhenCode HIFD_KRT81:c.1237G>A (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 7 HGVS names - click the plus to show

About this variant

This variant overlaps 4 transcripts, 2 regulatory features and is associated with 4 phenotypes.

Variant displays