Original source

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

Alleles
A/G/T | Ancestral: A | Ambiguity code: D
Location

Chromosome 12:52488349 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM056632, CM073172 ; PhenCode HIFD_KRT6A:c.1403T>A (A/T), HIFD_KRT6A:c.1403T>C (A/G)

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 2 phenotypes.

Variant displays