Annotation Detail
Information
- Associated Genes
- PSMA6 PRORP-PSMA6
- Associated Variants
-
PSMA6 c.172-10T>G, ENSG00000258790 c.*987-10T>G
(
ENST00000555764.5,
ENST00000261479.9,
ENST00000553809.5,
ENST00000627895.2,
ENST00000556506.1,
ENST00000540871.5,
ENST00000622405.4 )
PSMA6 c.172-10T>G, ENSG00000258790 c.*987-10T>G ( ENST00000261479.9, ENST00000540871.5, ENST00000553809.5, ENST00000555764.5, ENST00000556506.1, ENST00000622405.4, ENST00000627895.2 ) - Associated Disease
- PSMA6-related disorder
- Source Database
- ClinVar
- Description
- NM_002791.3(PSMA6):c.172-10T>G AND PSMA6-related disorder
- ClinVar Allele ID
- 3212732
- ClinVar RefSeq Alternation Syntax
- NM_001282233.1:c.-66-10T>G
- ClinVar RefSeq Alternation Syntax
- NM_001282234.1:c.115-10T>G
- ClinVar RefSeq Alternation Syntax
- NM_002791.3:c.172-10T>G
- ClinVar RefSeq Alternation Syntax
- NM_001282232.1:c.-66-10T>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2019-03-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003954753
- ClinVar Disease
- PSMA6-related disorder
- Observed Origin Sample
- germline
Drugs