Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W
Location

Chromosome 12:52680128 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM940998 ; PhenCode HIFD_KRT1:c.221A>T (T/A)

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