Annotation Detail
Information
- Associated Genes
- PSMA6 PRORP-PSMA6
- Associated Variants
-
PSMA6 c.-8C>G, ENSG00000258790 c.*891+13751C>G
(
ENST00000627895.2,
ENST00000540871.5,
ENST00000261479.9,
ENST00000555764.5,
ENST00000553809.5,
ENST00000622405.4,
ENST00000628955.1 )
PSMA6 c.-8C>G, ENSG00000258790 c.*891+13751C>G ( ENST00000261479.9, ENST00000540871.5, ENST00000553809.5, ENST00000555764.5, ENST00000622405.4, ENST00000627895.2, ENST00000628955.1 ) - Associated Disease
- PSMA6-related disorder
- Source Database
- ClinVar
- Description
- NM_002791.3(PSMA6):c.-8C>G AND PSMA6-related disorder
- ClinVar Allele ID
- 21835
- ClinVar RefSeq Alternation Syntax
- NM_001282234.1:c.19+13751C>G
- ClinVar RefSeq Alternation Syntax
- NM_001282232.1:c.-293C>G
- ClinVar RefSeq Alternation Syntax
- NM_001282233.1:c.-150C>G
- ClinVar RefSeq Alternation Syntax
- NM_002791.3:c.-8C>G
- ClinVar RefSeq Alternation Syntax
- NR_104110.1:n.153C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003982829
- ClinVar Disease
- PSMA6-related disorder
- Observed Origin Sample
- germline
Drugs