Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

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


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

Most severe consequence
Clinical significance

This variation has 3 synonyms - click the plus to show

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

About this variant

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

Variation displays