Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B
Location

Chromosome 12:52676318 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM110580, CM023635 ; PhenCode HIFD_KRT1:c.1432G>C (C/G), HIFD_KRT1:c.1432G>A (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB KRT1:c.1432G>C, KRT1:c.1432G>A

HGVS names

This variant has 8 HGVS names - Show

About this variant

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

Variant displays