Original source

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

Alleles
A/C/T | Ancestral: A | Ambiguity code: H
Location

Chromosome 12:52488367 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM044900, CM056629 ; PhenCode HIFD_KRT6A:c.1385T>G (A/C), HIFD_KRT6A:c.1385T>A (A/T)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB KRT6A:c.1385T>G, KRT6A:c.1385T>A

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