Original source

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

Alleles
T/C/G | Ancestral: T | Ambiguity code: B
Location

Chromosome 12:52492677 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM112584, CM056627 ; PhenCode HIFD_KRT6A:c.512A>G (T/C), HIFD_KRT6A:c.512A>C (T/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB KRT6A:c.512A>C, KRT6A:c.512A>G

This variant has 8 HGVS names - click the plus to show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature and is associated with 4 phenotypes.

Variant displays