Original source

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

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

Chromosome 12:52488346 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM013763, CM056633 ; PhenCode HIFD_KRT6A:c.1406T>C (A/G), HIFD_KRT6A:c.1406T>G (A/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature and is associated with 7 phenotypes.

Variant displays