Original source

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

C/T|Ambiguity code: Y

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

Co-located variants

COSMIC COSM162065 ; 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 - Show

HGVS names

This variant has 7 HGVS names - Show

About this variant

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

Variant displays