ClinVar Genomic variation as it relates to human health
NM_001391956.1(USP54):c.4306A>G (p.Ser1436Gly)
Germline
Classification
(1)
Uncertain significance
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 | |||
PPP3CB-AS1 | - | - | - | GRCh38 | - | 34 |
USP54 | - | - | - |
GRCh38 GRCh37 |
74 | 121 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 1, 2021 | RCV004078576.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 25, 2024