Original source

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

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

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


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

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

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

About this variant

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

Variant displays