Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

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

Co-located variants

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

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

About this variant

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

Variant displays