Annotation Detail
Information
- Associated Genes
- PRKDC
- Associated Variants
-
PRKDC c.4412+39T>C
(
ENST00000314191.7,
ENST00000338368.7 )
PRKDC c.4413+39T>C ( ENST00000314191.7, ENST00000338368.7 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_006904.7(PRKDC):c.4413+39T>C AND not provided
- ClinVar Allele ID
- 1255934
- ClinVar RefSeq Alternation Syntax
- NM_001081640.2:c.4413+39T>C
- ClinVar RefSeq Alternation Syntax
- NM_006904.7:c.4413+39T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-02-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001670568
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs