Original source

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

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

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

Co-located

with HGMD-PUBLIC CM034894

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

PhenCode ADM_227

This variant has 13 HGVS names - click the plus to show

About this variant

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

Variant displays