Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

Chromosome 12:52679785 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM022967 ; PhenCode HIFD_KRT1:c.564C>A (G/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 3 HGVS names - click the plus to show

About this variant

This variant overlaps 2 transcripts and is associated with 4 phenotypes.

Variation displays