Original source

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

Alleles
A/T|Ancestral: A|Ambiguity code: W
Location

Chromosome 1:226888945 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM034894

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

PhenCode ADM_227

HGVS names

This variant has 13 HGVS names - Show

About this variant

This variant overlaps 9 transcripts and is associated with 1 phenotype.

Variant displays