Annotation Detail
Information
- Associated Genes
- PRKDC
- Associated Variants
-
PRKDC p.Trp2337Arg (p.W2337R)
(
ENST00000314191.7,
ENST00000338368.7 )
PRKDC p.Leu2337Pro (p.L2337P) ( ENST00000314191.7, ENST00000338368.7 ) - Associated Disease
- Severe combined immunodeficiency due to DNA-PKcs deficiency
- Source Database
- ClinVar
- Description
- NM_006904.7(PRKDC):c.7010T>C (p.Leu2337Pro) AND Severe combined immunodeficiency due to DNA-PKcs deficiency
- ClinVar Allele ID
- 524206
- ClinVar RefSeq Alternation Syntax
- NM_001081640.2:c.7010T>C
- ClinVar RefSeq Alternation Syntax
- NM_006904.7:c.7010T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-12-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000652351
- ClinVar Disease
- Severe combined immunodeficiency due to DNA-PKcs deficiency
- Observed Origin Sample
- germline
Drugs