Original source

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

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

Chromosome 12:52488367 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM044900, CM056629 ; PhenCode HIFD_KRT6A:c.1385T>A (A/T), HIFD_KRT6A:c.1385T>G (A/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB KRT6A:c.1385T>G, KRT6A:c.1385T>A

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays