Original source

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

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 12:52791216 (forward strand) | View in location tab


with HGMD-PUBLIC CM970845 ; PhenCode HIFD_KRT3:c.1525G>A (C/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 3 HGVS names - click the plus to show

About this variant

This variant overlaps 1 transcript and is associated with 4 phenotypes.

Variation displays