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Variant : CV163840 (GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3) Homo sapiens

Symbol: CV163840
Name: GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3
Condition: See cases [RCV000142236]
Clinical Significance: pathogenic
Last Evaluated: 03/10/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABR   AC005224.3   AC005358.1   AC005695.1   AC005696.1   AC007846.1   AC015921.1   AC016876.2   AC055839.2   AC087392.1   AC087500.1   AC090282.1   AC091153.3   AC099684.1   AC141424.1   ACADVL   ACAP1   ADPRM   AIPL1   AL450226.1   ALOX12   ALOX12-AS1   ALOX12B   ALOX15   ALOX15B   ALOXE3   ANKFY1   ARHGAP44   ARHGEF15   ARRB2   ASGR1   ASGR2   ASPA   ATP1B2   ATP2A3   AURKB   BCL6B   BHLHA9   BORCS6   C17orf100   C17orf107   C17orf49   C17orf97   C1QBP   CAMKK1   CAMTA2   CCDC42   CCDC92B   CD68   CDRT15   CFAP52   CHD3   CHRNB1   CHRNE   CLDN7   CLEC10A   CLUH   CNTROB   COX10   COX10-AS1   CRK   CTC1   CTDNEP1   CTNS   CXCL16   CYB5D1   CYB5D2   DERL2   DHRS7C   DHX33   DHX33-DT   DLG4   DNAH2   DNAH9   DOC2B   DPH1   DVL2   EFNB3   EIF4A1   EIF5A   ELAC2   ELP5   EMC6   ENO3   FBXO39   FGF11   FXR2   GABARAP   GAS7   GEMIN4   GGT6   GLOD4   GLP2R   GLTPD2   GP1BA   GPS2   GSG1L2   GUCY2D   HASPIN   HES7   HIC1   HS3ST3A1   HS3ST3B1   INCA1   INPP5K   ITGAE   KCNAB3   KCTD11   KDM6B   KIAA0753   KIF1C   KIF1C-AS1   KRBA2   LINC00324   LINC00670   LINC01975   LINC01996   LINC02091   LINC02093   LOC284009   MAP2K4   MED11   MED31   METTL16   MFSD6L   MINK1   MIR1253   MIR1269B   MIR132   MIR195   MIR212   MIR22   MIR22HG   MIR3183   MIR324   MIR4314   MIR4520-1   MIR4520-2   MIR4521   MIR497   MIR497HG   MIR548H3   MIR6776   MIR6864   MIR6865   MIR6883   MIR744   MIS12   MNT   MPDU1   MRM3   MYBBP1A   MYH1   MYH10   MYH13   MYH2   MYH3   MYH4   MYH8   MYHAS   MYO1C   MYOCD   MYOCD-AS1   NAA38   NCBP3   NDEL1   NEURL4   NLGN2   NLRP1   NTN1   NUP88   NXN   ODF4   OR1A1   OR1A2   OR1D2   OR1D4   OR1D5   OR1E1   OR1E2   OR1E3   OR1G1   OR3A1   OR3A2   OR3A3   OVCA2   P2RX1   P2RX5   P2RX5-TAX1BP3   PAFAH1B1   PELP1   PER1   PFAS   PFN1   PHF23   PIK3R5   PIK3R6   PIMREG   PIRT   PITPNA   PITPNA-AS1   PITPNM3   PLD2   PLSCR3   POLR2A   PRPF8   PSMB6   RABEP1   RANGRF   RAP1GAP2   RCVRN   RFLNB   RILP   RNASEK   RNASEK-C17orf49   RNF167   RNF222   RNF227   RPA1   RPAIN   RPH3AL   RPL26   RTN4RL1   SAT2   SCARF1   SCARNA21   SCIMP   SCO1   SENP3   SENP3-EIF4A1   SERPINF1   SERPINF2   SGSM2   SHBG   SHISA6   SHPK   SLC13A5   SLC16A11   SLC16A13   SLC25A11   SLC25A35   SLC2A4   SLC35G6   SLC43A2   SLC52A1   SMG6   SMTNL2   SMYD4   SNORA48   SNORA67   SNORD10   SNORD118   SNORD91A   SNORD91B   SOX15   SPAG7   SPATA22   SPDYE4   SPEM1   SPEM2   SPEM3   SPNS2   SPNS3   SRR   STX8   TAX1BP3   TEKT1   TIMM22   TLCD2   TLCD3A   TM4SF5   TMEM102   TMEM107   TMEM220   TMEM220-AS1   TMEM238L   TMEM256   TMEM256-PLSCR3   TMEM88   TMEM95   TNFSF12   TNFSF12-TNFSF13   TNFSF13   TNK1   TP53   TRAPPC1   TRARG1   TRD-GTC2-11   TRG-GCC2-6   TRG-TCC3-1   TRI-AAT4-1   TRI-AAT5-5   TRK-TTT3-5   TRL-TAG1-1   TRP-CGG1-3   TRPV1   TRPV3   TRQ-CTG1-5   TRR-TCT2-1   TRS-AGA2-6   TRS-CGA1-1   TRS-GCT4-3   TRT-AGT1-1   TRT-AGT1-2   TRT-AGT5-1   TRW-CCA1-1   TRW-CCA3-3   TSR1   TXNDC17   UBE2G1   USP43   USP6   VAMP2   VMO1   VPS53   WDR81   WRAP53   WSCD1   XAF1   YBX2   YWHAE   ZBTB4   ZFP3   ZMYND15   ZNF18   ZNF232   ZNF232-AS1   ZNF594   ZZEF1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_150732)_(14764202_?)dup
NC_000017.10:g.(?_525)_(14667519_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3817150,732 - 14,764,202CLINVAR
GRCh3717525 - 14,667,519CLINVAR
Build 3617525 - 14,608,244CLINVAR
Cytogenetic Map1717p13.3-12CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9489755
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-07
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.