Original source

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

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

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

Co-located

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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

This variant has 8 HGVS names - click the plus to show

About this variant

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

Variant displays