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 22:50625633 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM970116

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_007284

HGVS names

This variant has 13 HGVS names - Show

About this variant

This variant overlaps 8 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays