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Variant : CV164602 (GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3) Homo sapiens

Symbol: CV164602
Name: GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3
Condition: See cases [RCV000142915]
Clinical Significance: pathogenic
Last Evaluated: 10/24/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AAGAB   ABHD17C   ABHD2   ACAN   ACSBG1   ADAMTS17   ADAMTS7   ADAMTSL3   ADPGK   ADPGK-AS1   AEN   AGBL1   AGBL1-AS1   AKAP13   ALDH1A3   ALPK3   ANKDD1A   ANKRD34C   ANKRD34C-AS1   ANP32A   ANP32A-IT1   ANPEP   ANXA2   AP3B2   AP3S2   APH1B   ARID3B   ARIH1   ARNT2   ARPIN   ARPIN-AP3S2   ARRDC4   ASB7   BBS4   BCL2A1   BLM   BNC1   BTBD1   C15orf32   C15orf39   C15orf40   C15orf61   C2CD4A   C2CD4B   CA12   CALML4   CCDC33   CD276   CELF6   CEMIP   CERS3   CERS3-AS1   CFAP161   CHD2   CHRNA3   CHRNA5   CHRNB4   CHSY1   CIAO2A   CIB1   CIB2   CILP   CLK3   CLN6   CLPX   COMMD4   CORO2B   COX5A   CPEB1   CPEB1-AS1   CPLX3   CRABP1   CRTC3   CRTC3-AS1   CSK   CSNK1G1   CSPG4   CT62   CTSH   CTXND1   CYP11A1   CYP1A1   CYP1A2   DAPK2   DENND4A   DET1   DIS3L   DNAJA4   DPP8   DRAIC   EDC3   EFL1   ETFA   EWSAT1   FAH   FAM169B   FAM174B   FAM219B   FANCI   FBXL22   FBXO22   FEM1B   FES   FOXB1   FSD2   FURIN   GDPGP1   GLCE   GOLGA6A   GOLGA6B   GOLGA6C   GOLGA6D   GOLGA6L10   GOLGA6L3   GOLGA6L4   GOLGA6L9   GRAMD2A   HACD3   HAPLN3   HCN4   HDDC3   HDGFL3   HERC1   HEXA   HEXA-AS1   HIGD2B   HMG20A   HOMER2   HYKK   ICE2   IDH2   IDH2-DT   IDH3A   IGDCC3   IGDCC4   IGF1R   IL16   IMP3   INSYN1   INSYN1-AS1   INTS14   IQCH   IQCH-AS1   IQGAP1   IRAIN   IREB2   ISG20   ISL2   ISLR   ISLR2   ITGA11   KBTBD13   KIF23   KIF7   KLHL25   LACTB   LARP6   LCTL   LINC00052   LINC00593   LINC00597   LINC00923   LINC00924   LINC00927   LINC00928   LINC00930   LINC00933   LINC01169   LINC01197   LINC01578   LINC01579   LINC01580   LINC01581   LINC01582   LINC01583   LINC01584   LINC01585   LINC01586   LINC02204   LINC02205   LINC02206   LINC02207   LINC02244   LINC02251   LINC02254   LINC02255   LINC02259   LINC02348   LINC02349   LINC02351   LINC02568   LINGO1   LINGO1-AS1   LINGO1-AS2   LINS1   LMAN1L   LOXL1   LOXL1-AS1   LRRC28   LRRC49   LRRK1   LUNAR1   LYSMD4   MAN2A2   MAN2C1   MAP2K1   MAP2K5   MCTP2   MEF2A   MEGF11   MESD   MESP1   MESP2   MEX3B   MFGE8   MINAR1   MIR1179   MIR1272   MIR1276   MIR1469   MIR184   MIR190A   MIR3174   MIR3175   MIR3529   MIR3713   MIR422A   MIR4311   MIR4312   MIR4313   MIR4511   MIR4512   MIR4513   MIR4514   MIR4515   MIR4714   MIR5009   MIR5094   MIR548AP   MIR549A   MIR5572   MIR6085   MIR629   MIR630   MIR631   MIR6766   MIR6881   MIR6882   MIR7-2   MIR7706   MIR8067   MIR9-3   MIR9-3HG   MORF4L1   MPI   MRPL46   MRPS11   MTFMT   MTHFS   MYO9A   NEIL1   NEO1   NGRN   NMB   NOX5   NPTN   NPTN-IT1   NR2E3   NR2F2   NR2F2-AS1   NRG4   NTRK3   NTRK3-AS1   OAZ2   ODF3L1   OR4F15   OR4F6   PAQR5   PARP16   PARP6   PCAT29   PCLAF   PCSK6   PCSK6-AS1   PDCD7   PDE8A   PEAK1   PEX11A   PGPEP1L   PIAS1   PIF1   PIRC76   PKM   PLEKHO2   PLIN1   PML   POLG   PPCDC   PPIB   PRC1   PRC1-AS1   PSMA4   PSTPIP1   PTPN9   RAB11A   RAB8B   RAMAC   RASGRF1   RASL12   RBPMS2   RCCD1   RCN2   REC114   RGMA   RHCG   RLBP1   RNU5A-1   RNU5B-1   RNU6-1   RORA   RORA-AS1   RORA-AS2   RPL4   RPLP1   RPP25   RPS17   RPS27L   SALRNA2   SALRNA3   SAXO2   SCAMP2   SCAMP5   SCAPER   SCARNA14   SCARNA15   SEC11A   SELENOS   SEMA4B   SEMA7A   SENP8   SH2D7   SH3GL3   SIN3A   SKOR1   SLC24A1   SLC28A1   SLC51B   SLCO3A1   SMAD3   SMAD6   SNAPC5   SNHG21   SNORA24B   SNORD13E   SNORD16   SNORD18A   SNORD18B   SNORD18C   SNRPA1   SNUPN   SNX1   SNX22   SNX33   SPATA41   SPATA8   SPATA8-AS1   SPESP1   SPG21   ST20   ST20-AS1   ST20-MTHFS   ST8SIA2   STARD5   STOML1   STRA6   SV2B   SYNM   TARSL2   TBC1D21   TBC1D2B   THAP10   THSD4   THSD4-AS1   THSD4-AS2   TICRR   TIPIN   TLE3   TLN2   TLNRD1   TM2D3   TM6SF1   TMC3   TMC3-AS1   TMED3   TMEM202   TMEM202-AS1   TMEM266   TPM1   TPM1-AS   TRC-GCA5-1   TRIP4   TRK-CTT1-2   TRQ-CTG1-4   TRR-TCG1-1   TSPAN3   TTC23   UACA   UBAP1L   UBE2Q2   UBE2Q2L   UBL7   UBL7-AS1   ULK3   UNC45A   USP3   USP3-AS1   VPS13C   VPS33B   VPS33B-DT   WDR61   WDR73   WDR93   WHAMM   ZFAND6   ZNF592   ZNF609   ZNF710   ZNF710-AS1   ZNF774   ZSCAN2   ZWILCH  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_59828460)_(101920998_?)dup
NC_000015.9:g.(?_60120659)_(102461201_?)dup
NC_000015.8:g.(?_57907951)_(100278724_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381559,828,460 - 101,920,998CLINVAR
GRCh371560,120,659 - 102,461,201CLINVAR
Build 361557,907,951 - 100,278,724CLINVAR
Cytogenetic Map1515q22.2-26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490513
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-06-18
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.