ClinVar Genomic variation as it relates to human health
NM_000682.7(ADRA2B):c.783C>T (p.Thr261=)
Germline
Classification
(1)
Likely benign
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
ADRA2B | - | - |
GRCh38 GRCh37 |
48 | 112 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
ADRA2B-related disorder
|
Likely benign (1) |
|
Dec 8, 2021 | RCV004548784.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 02, 2024