Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 3 HGVS names - click the plus to show

About this variant

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

Variant displays