Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 12:52488338 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM013764 ; PhenCode HIFD_KRT6A:c.1414G>A (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 3 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature and is associated with 4 phenotypes.

Variant displays