Original source

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

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

Chromosome 12:52677425 (forward strand) | View in location tab


with HGMD-PUBLIC CM101644, CM981136 ; PhenCode HIFD_KRT1:c.1019A>G (T/C), HIFD_KRT1:c.1019A>T (T/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 8 HGVS names - click the plus to show

About this variant

This variant overlaps 4 transcripts and is associated with 3 phenotypes.

Variant displays