Annotation Detail
Information
- Associated Genes
- CD79B CSH1 CSH2 CSHL1 CYB561 ACE DDX5 ERN1 GH1 GH2 ICAM2 MAP3K3 PECAM1 PSMC5 SCN4A SMARCD2 TBX2 PPM1D TBX4 MRC2 MED13 DCAF7 APPBP2 TLK2 POLG2 DDX42 TANC2 TACO1 BCAS3 TEX2 CCDC47 INTS2 LIMD2 KCNH6 BRIP1 CEP95 STRADA PRR29 FTSJ3 EFCAB3 MARCHF10 MILR1 METTL2A NACA2 LINC02875
- Associated Variants
- GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3
- Source Database
- ClinVar
- Description
- GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3 AND See cases
- ClinVar Allele ID
- 3308146
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004442795
- Observed Origin Sample
- unknown
Drugs