Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome 22:50625614 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM980120

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_007285

HGVS names

This variant has 26 HGVS names - Show

About this variant

This variant overlaps 16 transcripts, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays