Original source

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

A/G/T | Ancestral: A | Ambiguity code: D

Chromosome 12:52488349 (forward strand) | View in location tab


with HGMD-PUBLIC CM073172, CM056632 ; PhenCode HIFD_KRT6A:c.1403T>C (A/G), HIFD_KRT6A:c.1403T>A (A/T)

Most severe consequence
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 2 phenotypes.

Variation displays