Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | 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
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature and is associated with 1 phenotype.

Variant displays