Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV164706 (GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3) Homo sapiens

Symbol: CV164706
Name: GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3
Condition: See cases [RCV000143019]
Clinical Significance: pathogenic
Last Evaluated: 09/18/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD17C   ABHD2   ACAN   ACSBG1   ADAMTS17   ADAMTS7   ADAMTSL3   ADPGK   ADPGK-AS1   AEN   AGBL1   AGBL1-AS1   AKAP13   ALDH1A3   ALPK3   ANKRD34C   ANKRD34C-AS1   ANPEP   AP3B2   AP3S2   ARID3B   ARIH1   ARNT2   ARPIN   ARPIN-AP3S2   ARRDC4   ASB7   BBS4   BCL2A1   BLM   BNC1   BTBD1   C15orf32   C15orf39   C15orf40   CCDC33   CD276   CELF6   CEMIP   CERS3   CERS3-AS1   CFAP161   CHD2   CHRNA3   CHRNA5   CHRNB4   CHSY1   CIB1   CIB2   CLK3   COMMD4   COX5A   CPEB1   CPEB1-AS1   CPLX3   CRABP1   CRTC3   CRTC3-AS1   CSK   CSPG4   CTSH   CTXND1   CYP11A1   CYP1A1   CYP1A2   DET1   DNAJA4   EDC3   EFL1   ETFA   FAH   FAM169B   FAM174B   FAM219B   FANCI   FBXO22   FES   FSD2   FURIN   GDPGP1   GOLGA6A   GOLGA6B   GOLGA6C   GOLGA6D   GOLGA6L10   GOLGA6L3   GOLGA6L4   GOLGA6L9   GRAMD2A   HAPLN3   HCN4   HDDC3   HDGFL3   HEXA   HEXA-AS1   HIGD2B   HMG20A   HOMER2   HYKK   IDH2   IDH2-DT   IDH3A   IGF1R   IL16   IMP3   INSYN1   INSYN1-AS1   IQGAP1   IRAIN   IREB2   ISG20   ISL2   ISLR   ISLR2   KIF7   KLHL25   LINC00052   LINC00597   LINC00923   LINC00924   LINC00927   LINC00928   LINC00930   LINC00933   LINC01197   LINC01578   LINC01579   LINC01580   LINC01581   LINC01582   LINC01583   LINC01584   LINC01585   LINC01586   LINC02207   LINC02244   LINC02251   LINC02254   LINC02255   LINC02259   LINC02348   LINC02351   LINGO1   LINGO1-AS1   LINGO1-AS2   LINS1   LMAN1L   LOXL1   LOXL1-AS1   LRRC28   LRRK1   LUNAR1   LYSMD4   MAN2A2   MAN2C1   MCTP2   MEF2A   MESD   MESP1   MESP2   MEX3B   MFGE8   MINAR1   MIR11181   MIR1179   MIR12135   MIR1276   MIR1469   MIR184   MIR3174   MIR3175   MIR3529   MIR3713   MIR4313   MIR4513   MIR4514   MIR4515   MIR4714   MIR5009   MIR5094   MIR548AP   MIR549A   MIR5572   MIR630   MIR631   MIR6766   MIR6881   MIR6882   MIR7-2   MIR7706   MIR9-3   MIR9-3HG   MORF4L1   MPI   MRPL46   MRPS11   MTHFS   NEIL1   NEO1   NGRN   NMB   NPTN   NPTN-IT1   NR2F2   NR2F2-AS1   NRG4   NTRK3   NTRK3-AS1   ODF3L1   OR4F15   OR4F6   PARP6   PCSK6   PCSK6-AS1   PDE8A   PEAK1   PEX11A   PGPEP1L   PIRC76   PKM   PLIN1   PML   POLG   PPCDC   PRC1   PRC1-AS1   PSMA4   PSTPIP1   PTPN9   RAMAC   RASGRF1   RCCD1   RCN2   REC114   RGMA   RHCG   RLBP1   RPP25   RPS17   SAXO2   SCAMP2   SCAMP5   SCAPER   SCARNA15   SEC11A   SELENOS   SEMA4B   SEMA7A   SH2D7   SH3GL3   SIN3A   SLC28A1   SLCO3A1   SNHG21   SNRPA1   SNUPN   SNX33   SPATA41   SPATA8   SPATA8-AS1   ST20   ST20-AS1   ST20-MTHFS   ST8SIA2   STARD5   STOML1   STRA6   SV2B   SYNM   TARS3   TBC1D21   TBC1D2B   TICRR   TLNRD1   TM2D3   TM6SF1   TMC3   TMC3-AS1   TMED3   TMEM202   TMEM202-AS1   TMEM266   TRC-GCA5-1   TRK-CTT1-2   TRR-TCG1-1   TSPAN3   TTC23   UBE2Q2   UBE2Q2L   UBL7   UBL7-AS1   ULK3   UNC45A   VPS33B   VPS33B-DT   WDR61   WDR73   WDR93   WHAMM   ZFAND6   ZNF592   ZNF710   ZNF710-AS1   ZNF774   ZSCAN2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_72154949)_(101920998_?)dup
NC_000015.9:g.(?_72447290)_(102461201_?)dup
NC_000015.8:g.(?_70234344)_(100278724_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381572,154,949 - 101,920,998CLINVAR
GRCh371572,447,290 - 102,461,201CLINVAR
Build 361570,234,344 - 100,278,724CLINVAR
Cytogenetic Map1515q23-26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490617
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



NHLBI Logo

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