Original source

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

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

Chromosome 12:52952781 (forward strand) | View in location tab

Co-located

with PhenCode HIFD_KRT18:c.1232G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB KRT18:c.1232G>A

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

About this variant

This variant overlaps 16 transcripts and is associated with 1 phenotype.

Variant displays