Original source

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

A/C/G | Ancestral: A | Ambiguity code: V

Chromosome 12:52676293 (forward strand) | View in location tab


with HGMD-PUBLIC CM113094, CM022968 ; PhenCode HIFD_KRT1:c.1457T>C (A/G), HIFD_KRT1:c.1457T>G (A/C)

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