Original source

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

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

Chromosome 12:52679786 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM941001, CM994570 ; PhenCode HIFD_KRT1:c.563A>G (T/C), HIFD_KRT1:c.563A>C (T/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 4 transcripts and is associated with 3 phenotypes.

Variant displays