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Variant : CV73170 (GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3) Homo sapiens

Symbol: CV73170
Name: GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD17C   ABHD2   ACAN   ACSBG1   ADAMTS17   ADAMTS7   ADAMTSL3   AEN   AGBL1   AGBL1-AS1   AKAP13   ALDH1A3   ALPK3   ANKRD34C   ANKRD34C-AS1   ANPEP   AP3B2   AP3S2   ARNT2   ARPIN   ARPIN-AP3S2   ARRDC4   ASB7   BCL2A1   BLM   BNC1   BTBD1   C15orf32   C15orf40   CEMIP   CERS3   CERS3-AS1   CFAP161   CHD2   CHRNA3   CHRNA5   CHRNB4   CHSY1   CIB1   CIB2   COMMD4   CPEB1   CPEB1-AS1   CRABP1   CRTC3   CRTC3-AS1   CSPG4   CTSH   CTXND1   DET1   DNAJA4   EFL1   ETFA   FAH   FAM169B   FAM174B   FANCI   FBXO22   FES   FSD2   FURIN   GDPGP1   GOLGA6L10   GOLGA6L3   GOLGA6L4   GOLGA6L9   HAPLN3   HDDC3   HDGFL3   HMG20A   HOMER2   HYKK   IDH2   IDH2-DT   IDH3A   IGF1R   IL16   IMP3   IQGAP1   IRAIN   IREB2   ISG20   ISL2   KIF7   KLHL25   LINC00052   LINC00597   LINC00923   LINC00924   LINC00927   LINC00928   LINC00930   LINC00933   LINC01197   LINC01578   LINC01579   LINC01580   LINC01581   LINC01582   LINC01583   LINC01584   LINC01585   LINC01586   LINC02207   LINC02251   LINC02254   LINC02348   LINC02351   LINGO1   LINGO1-AS1   LINGO1-AS2   LINS1   LRRC28   LRRK1   LUNAR1   LYSMD4   MAN2A2   MAN2C1   MCTP2   MEF2A   MESD   MESP1   MESP2   MEX3B   MFGE8   MINAR1   MIR1179   MIR1276   MIR1469   MIR184   MIR3174   MIR3175   MIR3529   MIR3713   MIR4313   MIR4514   MIR4515   MIR4714   MIR5009   MIR5094   MIR548AP   MIR549A   MIR5572   MIR631   MIR6766   MIR7-2   MIR7706   MIR9-3   MIR9-3HG   MORF4L1   MRPL46   MRPS11   MTHFS   NEIL1   NGRN   NMB   NR2F2   NR2F2-AS1   NRG4   NTRK3   NTRK3-AS1   ODF3L1   PCSK6   PCSK6-AS1   PDE8A   PEAK1   PEX11A   PGPEP1L   PIRC76   PLIN1   POLG   PRC1   PRC1-AS1   PSMA4   PSTPIP1   PTPN9   RAMAC   RASGRF1   RCCD1   RCN2   RGMA   RHCG   RLBP1   RPS17   SAXO2   SCAND2P   SCAPER   SCARNA15   SEC11A   SELENOS   SEMA4B   SH2D7   SH3GL3   SIN3A   SLC28A1   SLCO3A1   SNHG21   SNRPA1   SNUPN   SNX33   SPATA41   SPATA8   SPATA8-AS1   ST20   ST20-AS1   ST20-MTHFS   ST8SIA2   STARD5   SV2B   SYNM   TARS3   TBC1D2B   TICRR   TLNRD1   TM2D3   TM6SF1   TMC3   TMC3-AS1   TMED3   TMEM266   TRC-GCA5-1   TRK-CTT1-2   TRR-TCG1-1   TSPAN3   TTC23   UBE2Q2   UBE2Q2L   UNC45A   VPS33B   VPS33B-DT   WDR61   WDR73   WDR93   WHAMM   ZFAND6   ZNF592   ZNF710   ZNF774   ZSCAN2  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_75307767)_(101723215_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381575,307,767 - 101,723,215CLINVAR
GRCh371575,600,108 - 102,263,418CLINVAR
Build 361573,387,161 - 100,080,941CLINVAR
Cytogenetic Map1515q24.2-26.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability

Additional Information

CRRD Object Information
CRRD ID: 8619337
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE


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