Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 22:36305975 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM002810

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4237, NM_002473.4:c.2114G>A

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 4 transcripts, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays