Original source

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

A/C/T|Ancestral: A|Ambiguity code: H

Chromosome 12:52679885 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM940999, CM014939 ; PhenCode HIFD_KRT1:c.464T>G (A/C), HIFD_KRT1:c.464T>A (A/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 4 transcripts and is associated with 5 phenotypes.

Variant displays