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 12:52679885 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM940999, CM014939 ; PhenCode HIFD_KRT1:c.464T>A (A/T), HIFD_KRT1:c.464T>G (A/C)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

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

About this variant

This variant overlaps 4 transcripts and is associated with 5 phenotypes.

Variation displays