Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 12:52952188 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM034543 ; PhenCode HIFD_KRT18:c.1018G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB KRT18:c.1018G>A

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 16 transcripts, 2 regulatory features and is associated with 1 phenotype.

Variant displays