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 12:52306270 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM970853 ; PhenCode HIFD_KRT86:c.1237G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays