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Variant : CV73175 (GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3) Homo sapiens

Symbol: CV73175
Name: GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052352]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052352]|See cases [RCV000052352]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD2   ACAN   ADAMTS17   AEN   AGBL1   AGBL1-AS1   AKAP13   ALDH1A3   ALPK3   ANPEP   AP3S2   ARPIN   ARPIN-AP3S2   ARRDC4   ASB7   BLM   C15orf32   CERS3   CERS3-AS1   CHD2   CHSY1   CIB1   CRTC3   CRTC3-AS1   DET1   FAM169B   FAM174B   FANCI   FES   FURIN   GDPGP1   GOLGA6L3   GOLGA6L4   HAPLN3   HDDC3   IDH2   IDH2-DT   IGF1R   IQGAP1   IRAIN   ISG20   KIF7   KLHL25   LINC00052   LINC00923   LINC00924   LINC00928   LINC00930   LINC00933   LINC01197   LINC01578   LINC01579   LINC01580   LINC01581   LINC01582   LINC01584   LINC01585   LINC01586   LINC02207   LINC02244   LINC02251   LINC02254   LINC02348   LINC02351   LINS1   LRRC28   LRRK1   LUNAR1   LYSMD4   MAN2A2   MCTP2   MEF2A   MESP1   MESP2   MFGE8   MIR1179   MIR1276   MIR1469   MIR3174   MIR3175   MIR3529   MIR4714   MIR5009   MIR5094   MIR548AP   MIR6766   MIR7-2   MIR7706   MIR9-3   MIR9-3HG   MRPL46   MRPS11   NGRN   NMB   NR2F2   NR2F2-AS1   NTRK3   NTRK3-AS1   OR4F15   OR4F6   PCSK6   PCSK6-AS1   PDE8A   PEX11A   PGPEP1L   PIRC76   PLIN1   POLG   PRC1   PRC1-AS1   RCCD1   RGMA   RHCG   RLBP1   SEC11A   SELENOS   SEMA4B   SLC28A1   SLCO3A1   SNRPA1   SPATA41   SPATA8   SPATA8-AS1   ST8SIA2   SV2B   SYNM   TARSL2   TICRR   TM2D3   TRR-TCG1-1   TTC23   UBE2Q2L   UNC45A   VPS33B   VPS33B-DT   WDR73   WDR93   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.(?_84169153)_(101904929_?)dup
NC_000015.9:g.(?_84837905)_(102445132_?)dup
NC_000015.8:g.(?_82628909)_(100262655_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381584,169,153 - 101,904,929CLINVAR
GRCh371584,837,905 - 102,445,132CLINVAR
Build 361582,628,909 - 100,262,655CLINVAR
Cytogenetic Map1515q25.2-26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619342
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.