Original source

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

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

Chromosome 12:52491738 (forward strand) | View in location tab


with HGMD-PUBLIC CS112593, CS112592 ; PhenCode HIFD_KRT6A:c.541-2A>C (T/G), HIFD_KRT6A:c.541-2A>G (T/C)

Most severe consequence
Splice acceptor variant
Evidence status

Clinical significance


LSDB KRT6A:c.541-2A>G, KRT6A:c.541-2A>C

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