Original source

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

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

Chromosome 12:52488371 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM112587, CM112586 ; PhenCode HIFD_KRT6A:c.1381G>A (C/T), HIFD_KRT6A:c.1381G>C (C/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays