Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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


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

Most severe consequence
Splice acceptor variant
Evidence status

Clinical significance


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

This variant has 6 HGVS names - click the plus to show

About this variant

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

Variant displays