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Variant : CV614055 (GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)) Homo sapiens

Symbol: CV614055
Name: GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)
Condition: not provided [RCV000767759]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ABHD2   ACAN   ADAMTSL3   AEN   AGBL1   AKAP13   ALPK3   ANPEP   AP3S2   ARPIN   ARPIN-AP3S2   BLM   BNC1   CIB1   CRTC3   DET1   FANCI   FES   FURIN   GDPGP1   GOLGA6L3   HAPLN3   HDDC3   IDH2   IQGAP1   ISG20   KIF7   KLHL25   LINC00928   MAN2A2   MESP1   MESP2   MFGE8   MIR9-3   MRPL46   MRPS11   NGRN   NMB   NTRK3   PDE8A   PEX11A   PLIN1   POLG   PRC1   RCCD1   RHCG   RLBP1   SEC11A   SEMA4B   SH3GL3   SLC28A1   SV2B   TICRR   UNC45A   VPS33B   WDR73   WDR93   ZNF592   ZNF710   ZNF774   ZSCAN2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371583,883,823 - 92,165,844CLINVAR
Cytogenetic Map1515q25.2-26.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14399646
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2019-07-30
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.