Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

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

Chromosome 12:52492668 (forward strand) | View in location tab


with HGMD-PUBLIC CM076258, CM990783 ; PhenCode HIFD_KRT6A:c.521T>G (A/C), HIFD_KRT6A:c.521T>C (A/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays