Original source

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

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

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

Co-located

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
Evidence status

Clinical significance

Synonyms

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

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

About this variant

This variant overlaps 13 transcripts and is associated with 2 phenotypes.

Variation displays