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Variant : CV73171 (GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3) Homo sapiens

Symbol: CV73171
Name: GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052347]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052347]|See cases [RCV000052347]
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   CPEB1   CPEB1-AS1   CRABP1   CRTC3   CRTC3-AS1   CTSH   CTXND1   DET1   DNAJA4   EFL1   FAH   FAM169B   FAM174B   FANCI   FES   FSD2   FURIN   GDPGP1   GOLGA6L10   GOLGA6L3   GOLGA6L4   GOLGA6L9   HAPLN3   HDDC3   HDGFL3   HOMER2   HYKK   IDH2   IDH2-DT   IDH3A   IGF1R   IL16   IQGAP1   IRAIN   IREB2   ISG20   KIF7   KLHL25   LINC00052   LINC00923   LINC00924   LINC00927   LINC00928   LINC00930   LINC00933   LINC01197   LINC01578   LINC01579   LINC01580   LINC01581   LINC01582   LINC01583   LINC01584   LINC01585   LINC01586   LINC02207   LINC02244   LINC02251   LINC02254   LINC02348   LINC02351   LINGO1   LINGO1-AS1   LINGO1-AS2   LINS1   LRRC28   LRRK1   LUNAR1   LYSMD4   MAN2A2   MCTP2   MEF2A   MESD   MESP1   MESP2   MEX3B   MFGE8   MINAR1   MIR1179   MIR1276   MIR1469   MIR184   MIR3174   MIR3175   MIR3529   MIR4514   MIR4515   MIR4714   MIR5009   MIR5094   MIR548AP   MIR549A   MIR5572   MIR6766   MIR7-2   MIR7706   MIR9-3   MIR9-3HG   MORF4L1   MRPL46   MRPS11   MTHFS   NGRN   NMB   NR2F2   NR2F2-AS1   NTRK3   NTRK3-AS1   OR4F15   OR4F6   PCSK6   PCSK6-AS1   PDE8A   PEX11A   PGPEP1L   PIRC76   PLIN1   POLG   PRC1   PRC1-AS1   PSMA4   RAMAC   RASGRF1   RCCD1   RGMA   RHCG   RLBP1   RPS17   SAXO2   SCARNA15   SEC11A   SELENOS   SEMA4B   SH2D7   SH3GL3   SLC28A1   SLCO3A1   SNHG21   SNRPA1   SPATA41   SPATA8   SPATA8-AS1   ST20   ST20-AS1   ST20-MTHFS   ST8SIA2   STARD5   SV2B   SYNM   TARSL2   TBC1D2B   TICRR   TLNRD1   TM2D3   TM6SF1   TMC3   TMC3-AS1   TMED3   TRC-GCA5-1   TRK-CTT1-2   TRR-TCG1-1   TTC23   UBE2Q2L   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.(?_77543797)_(101843411_?)dup
NC_000015.9:g.(?_77836139)_(102383614_?)dup
NC_000015.8:g.(?_75623194)_(100201137_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381577,543,797 - 101,843,411CLINVAR
GRCh371577,836,139 - 102,383,614CLINVAR
Build 361575,623,194 - 100,201,137CLINVAR
Cytogenetic Map1515q24.3-26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619338
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-08-06
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.