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Variant : CV550765 (NC_000015.9:g.31115047_102354857dup) Homo sapiens

Symbol: CV550765
Name: NC_000015.9:g.31115047_102354857dup
Condition: not provided [RCV000677926]
Clinical Significance: pathogenic
Last Evaluated: 04/05/2018
Review Status: criteria provided, single submitter
Related Genes: AAGAB   ABHD17C   ABHD2   ACAN   ACSBG1   ACTC1   ADAL   ADAM10   ADAMTS17   ADAMTS7   ADAMTSL3   ADPGK   AEN   AGBL1   AKAP13   ALDH1A2   ALDH1A3   ALPK3   ANKDD1A   ANKRD34C   ANKRD63   ANP32A   ANPEP   ANXA2   AP3B2   AP3S2   AP4E1   APH1B   AQP9   AQR   ARHGAP11A   ARID3B   ARIH1   ARNT2   ARPIN   ARPIN-AP3S2   ARPP19   ARRDC4   ASB7   ATP8B4   AVEN   B2M   BAHD1   BBS4   BCL2A1   BCL2L10   BLM   BLOC1S6   BMF   BNC1   BNIP2   BTBD1   BUB1B   C15orf32   C15orf39   C15orf40   C15orf41   C15orf48   C15orf54   C15orf56   C15orf61   C15orf62   C15orf65   C2CD4A   C2CD4B   CA12   CALML4   CAPN3   CASC4   CATSPER2   CCDC32   CCDC33   CCDC9B   CCNB2   CCNDBP1   CCPG1   CD276   CDAN1   CELF6   CEMIP   CEP152   CERS3   CFAP161   CGNL1   CHAC1   CHD2   CHP1   CHRM5   CHRNA3   CHRNA5   CHRNA7   CHRNB4   CHST14   CHSY1   CIAO2A   CIB1   CIB2   CILP   CKMT1A   CKMT1B   CLK3   CLN6   CLPX   COMMD4   COPS2   CORO2B   COX5A   CPEB1   CPLX3   CRABP1   CRTC3   CSK   CSNK1G1   CSPG4   CT62   CTDSPL2   CTSH   CTXN2   CYP11A1   CYP19A1   CYP1A1   CYP1A2   DAPK2   DENND4A   DET1   DIS3L   DISP2   DLL4   DMXL2   DNAAF4   DNAJA4   DNAJC17   DPH6   DPP8   DTWD1   DUOX1   DUOX2   DUOXA1   DUOXA2   DUT   EDC3   EFL1   EHD4   EID1   EIF2AK4   EIF3J   ELL3   EMC4   EMC7   EPB42   ETFA   EXD1   FAH   FAM169B   FAM174B   FAM214A   FAM219B   FAM227B   FAM81A   FAM98B   FAN1   FANCI   FBN1   FBXL22   FBXO22   FEM1B   FES   FGF7   FOXB1   FRMD5   FSD2   FSIP1   FURIN   GABPB1   GALK2   GANC   GATM   GCHFR   GCNT3   GDPGP1   GJD2   GLCE   GLDN   GNB5   GOLGA6A   GOLGA6B   GOLGA6C   GOLGA6D   GOLGA6L3   GOLGA8A   GOLGA8B   GOLGA8N   GOLGA8O   GPR176   GRAMD2A   GREM1   GTF2A2   HACD3   HAPLN3   HAUS2   HCN4   HDC   HDDC3   HERC1   HEXA   HMG20A   HOMER2   HYKK   HYPK   ICE2   IDH2   IDH3A   IGDCC3   IGDCC4   IGF1R   IL16   IMP3   INO80   INSYN1   INTS14   IQCH   IQGAP1   IREB2   ISG20   ISL2   ISLR   ISLR2   ITGA11   ITPKA   IVD   JMJD7   KATNBL1   KBTBD13   KIF23   KIF7   KLF13   KLHL25   KNL1   KNSTRN   LACTB   LARP6   LCMT2   LCTL   LDHAL6B   LEO1   LINC00928   LINC02694   LINGO1   LINS1   LIPC   LMAN1L   LOXL1   LPCAT4   LRRC28   LRRC49   LRRC57   LRRK1   LTK   LYSMD2   LYSMD4   MAN2A2   MAN2C1   MAP1A   MAP2K1   MAP2K5   MAPK6   MAPKBP1   MCTP2   MEF2A   MEGF11   MEIS2   MESD   MESP1   MESP2   MEX3B   MFAP1   MFGE8   MGA   MINAR1   MINDY2   MIR184   MIR211   MIR9-3   MNS1   MORF4L1   MPI   MRPL46   MRPS11   MTFMT   MTHFS   MTMR10   MYEF2   MYO1E   MYO5A   MYO5C   MYO9A   MYZAP   NDUFAF1   NEDD4   NEIL1   NEO1   NGRN   NMB   NOP10   NOX5   NPTN   NR2E3   NR2F2   NRG4   NTRK3   NUSAP1   NUTM1   OAZ2   ODF3L1   OIP5   ONECUT1   OR4F6   OTUD7A   PAK6   PAQR5   PARP16   PARP6   PATL2   PCLAF   PCSK6   PDCD7   PDE8A   PDIA3   PEAK1   PEX11A   PGBD4   PGPEP1L   PHGR1   PIAS1   PIF1   PIGB   PKM   PLA2G4B   PLA2G4D   PLA2G4E   PLA2G4F   PLCB2   PLEKHO2   PLIN1   PML   POLG   POLR2M   PPCDC   PPIB   PPIP5K1   PPP1R14D   PRC1   PRTG   PSMA4   PSTPIP1   PTPN9   PYGO1   RAB11A   RAB27A   RAB8B   RAD51   RAMAC   RASGRF1   RASGRP1   RASL12   RBPMS2   RCCD1   RCN2   REC114   RFX7   RGMA   RHCG   RHOV   RLBP1   RMDN3   RNF111   RNU5A-1   RNU6-1   RORA   RPAP1   RPL4   RPLP1   RPP25   RPS17   RPS27L   RPUSD2   RSL24D1   RTF1   RYR3   SAXO2   SCAMP2   SCAMP5   SCAPER   SCARNA15   SCG3   SCG5   SEC11A   SECISBP2L   SELENOS   SEMA4B   SEMA6D   SEMA7A   SENP8   SERF2   SERINC4   SH2D7   SH3GL3   SHC4   SHF   SIN3A   SKOR1   SLC12A1   SLC12A6   SLC24A1   SLC24A5   SLC27A2   SLC28A1   SLC28A2   SLC30A4   SLC51B   SLCO3A1   SLTM   SMAD3   SMAD6   SNAP23   SNAPC5   SNRPA1   SNUPN   SNX1   SNX22   SNX33   SORD   SPATA5L1   SPATA8   SPESP1   SPG11   SPG21   SPINT1   SPPL2A   SPRED1   SPTBN5   SQOR   SRP14   ST20   ST20-MTHFS   ST8SIA2   STARD5   STARD9   STOML1   STRA6   STRC   SV2B   SYNM   TARSL2   TBC1D21   TBC1D2B   TCF12   TERB2   TEX9   TGM5   TGM7   THAP10   THBS1   THSD4   TICRR   TIPIN   TLE3   TLN2   TLNRD1   TM2D3   TM6SF1   TMC3   TMCO5A   TMED3   TMEM202   TMEM266   TMEM62   TMEM87A   TMOD2   TMOD3   TNFAIP8L3   TP53BP1   TPM1   TRIM69   TRIP4   TRPM1   TRPM7   TSPAN3   TTBK2   TTC23   TUBGCP4   TYRO3   UACA   UBAP1L   UBE2Q2   UBL7   UBR1   ULK3   UNC13C   UNC45A   USP3   USP50   USP8   VPS13C   VPS18   VPS33B   VPS39   WDR61   WDR72   WDR73   WDR76   WDR93   WHAMM   ZFAND6   ZFYVE19   ZNF106   ZNF280D   ZNF592   ZNF609   ZNF710   ZNF770   ZNF774   ZSCAN2   ZSCAN29   ZWILCH  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: provider interpretation
HGVS Name(s): NC_000015.9:g.31115047_102354857dup
Position
Human AssemblyChrPosition (strand)Source
GRCh371531,115,047 - 102,354,857CLINVAR
Cytogenetic Map1515q13.2-26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13785923
Created: 2018-09-11
Species: Homo sapiens
Last Modified: 2019-06-12
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.