Annotation Detail
Information
- Associated Genes
- ADGRE5 DNAJB1 NDUFB7 NOTCH3 PKN1 PTGER1 SLC1A6 TECR DDX39A AKAP8 GIPC1 ILVBL BRD4 CASP14 OR7A17 OR7C2 OR7A5 OR7C1 AKAP8L ADGRE2 WIZ RASAL3 EPHX3 ZNF333 ADGRE3 SYDE1 PGLYRP2 OR1I1 TEKTL1 CYP4F22 CLEC17A OR7A10
- Associated Variants
- GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1
- Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1 AND not provided
- ClinVar Allele ID
- 804276
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-27
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001007034
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs