Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL c.-70-5_-55delCGCACGCAGCTCCGCCCCGCG
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713982.1 )
VHL c.-70-5_-55delCGCACGCAGCTCCGCCCCGCG ( ENST00000256474.3, ENST00000345392.3, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713982.1 ) - Associated Disease
- Von Hippel-Lindau syndrome
- Source Database
- ClinVar
- Description
- NM_000551.3(VHL):c.-75_-55del AND Von Hippel-Lindau syndrome
- ClinVar Allele ID
- 173876
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2014-12-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000152657
- ClinVar Disease
- Von Hippel-Lindau syndrome
- Observed Origin Sample
- germline
Drugs