Annotation Detail
Information
- Associated Genes
- ABR ALOX15 ARRB2 ASPA ATP2A3 C1QBP CHRNE CRK CTNS DPH1 ENO3 GP1BA HIC1 ITGAE MNT MYO1C NUP88 OR1D2 OR3A1 OR3A2 P2RX1 P2RX5 PAFAH1B1 SERPINF1 PFN1 PITPNA PLD2 SERPINF2 PSMB6 RPA1 UBE2G1 TRPV1 YWHAE ZNF232 OR1A1 OR1D5 OR1E1 OR1E2 OR1G1 OR3A3 SLC25A11 SCARF1 TM4SF5 USP6 RABEP1 RPH3AL SPAG7 SGSM2 MYBBP1A PRPF8 KIF1C NLRP1 RAP1GAP2 CAMTA2 ZZEF1 CLUH SMG6 WSCD1 SHPK RNF167 OR1A2 PELP1 TIMM22 TAX1BP3 MINK1 GEMIN4 DERL2 GLOD4 ANKFY1 INPP5K SLC52A1 MRM3 VPS53 NCBP3 TSR1 DHX33 CXCL16 SRR NXN MIS12 METTL16 TLCD3A EMC6 RILP HASPIN ZMYND15 CAMKK1 RPAIN ZNF594 SPATA22 SMYD4 OVCA2 SLC43A2 CYB5D2 ZFP3 GGT6 SPNS2 WDR81 RTN4RL1 TRPV3 SPNS3 VMO1 TRARG1 SMTNL2 RFLNB GLTPD2 INCA1 SCIMP LIAT1 MED11 MIR132 MIR212 MIR22 BHLHA9 TLCD2 C17orf107 LOC100288728
- Associated Variants
- GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)
- Associated Disease
- Chromosome 17P13.3, telomeric, duplication syndrome
- Source Database
- ClinVar
- Description
- GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) AND Chromosome 17P13.3, telomeric, duplication syndrome
- ClinVar Allele ID
- 613882
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-11-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000767586
- ClinVar Disease
- Chromosome 17P13.3, telomeric, duplication syndrome
- Observed Origin Sample
- de novo
Drugs