Original source

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

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

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

Co-located variants

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

Most severe consequence
Splice acceptor variant
Evidence status

Clinical significance


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