ClinVar Genomic variation as it relates to human health
NM_001391956.1(USP54):c.4183C>T (p.Arg1395Ter)
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
PPP3CB-AS1 | - | - | - | GRCh38 | - | 34 |
USP54 | - | - | - |
GRCh38 GRCh37 |
74 | 121 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
USP54-related disorder
|
Likely benign (1) |
|
Sep 8, 2022 | RCV003939774.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024