Original source

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

Alleles
G/T|Ancestral: G|Ambiguity code: K
Location

Chromosome 12:52679785 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM022967 ; PhenCode HIFD_KRT1:c.564C>A (G/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 3 HGVS names - Show

About this variant

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

Variant displays