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 12:52492668 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM076258, CM990783 ; PhenCode HIFD_KRT6A:c.521T>C (A/G), HIFD_KRT6A:c.521T>G (A/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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