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 12:52492677 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM056627, CM112584 ; PhenCode HIFD_KRT6A:c.512A>C (T/G), HIFD_KRT6A:c.512A>G (T/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB KRT6A:c.512A>C, KRT6A:c.512A>G

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature and is associated with 4 phenotypes.

Variant displays