Annotation Detail
Information
- Associated Genes
- PRKDC
- Associated Variants
-
PRKDC c.1623+6A>G
(
ENST00000314191.7,
ENST00000338368.7 )
PRKDC c.1623+6A>G ( ENST00000314191.7, ENST00000338368.7 ) - Associated Disease
- Severe combined immunodeficiency due to DNA-PKcs deficiency
- Source Database
- ClinVar
- Description
- NM_006904.7(PRKDC):c.1623+6A>G AND Severe combined immunodeficiency due to DNA-PKcs deficiency
- ClinVar Allele ID
- 371924
- ClinVar RefSeq Alternation Syntax
- NM_001081640.2:c.1623+6A>G
- ClinVar RefSeq Alternation Syntax
- NM_006904.7:c.1623+6A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001518421
- ClinVar Disease
- Severe combined immunodeficiency due to DNA-PKcs deficiency
- Observed Origin Sample
- germline
Drugs