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 12:52488346 (forward strand) | View in location tab


with HGMD-PUBLIC CM056633, CM013763 ; PhenCode HIFD_KRT6A:c.1406T>G (A/C), HIFD_KRT6A:c.1406T>C (A/G)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 6 HGVS names - click the plus to show

About this variant

This variant overlaps 13 transcripts and is associated with 5 phenotypes.

Variation displays