Original source

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

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

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

Co-located variants

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

Synonyms

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 4 phenotypes.

Variant displays