Annotation Detail
Information
- Associated Genes
- RNF213 ENDOV RNF213-AS1 MIR4730 LOC130061908
- Associated Variants
- NC_000017.11:g.80392616_80422726del AND Moyamoya disease 2
- Associated Disease
- Moyamoya disease 2
- Source Database
- ClinVar
- Description
- NC_000017.11:g.80392616_80422726del AND Moyamoya disease 2
- ClinVar Allele ID
- 1334197
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-03-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001839371
- ClinVar Disease
- Moyamoya disease 2
- Observed Origin Sample
- inherited
Drugs