Original source

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

Alleles
C/A/G|Ancestral: C|Ambiguity code: V
Location

Chromosome 12:52491737 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CS112591, CS112590 ; PhenCode HIFD_KRT6A:c.541-1G>T (C/A), HIFD_KRT6A:c.541-1G>C (C/G)

Most severe consequence
 
Splice acceptor variant
Evidence status

Clinical significance

Synonyms

LSDB KRT6A:c.541-1G>C, KRT6A:c.541-1G>T

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