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Variant : CV158696 (GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3) Homo sapiens

Symbol: CV158696
Name: GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3
Condition: See cases [RCV000138007]
Clinical Significance: pathogenic
Last Evaluated: 12/16/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: A1CF   AC021028.1   AC024597.1   AC025428.1   ADAMTS14   ADIRF   ADIRF-AS1   ADK   ADO   AGAP11   AGAP5   AIFM2   AL133481.2   AL135925.1   AL353784.1   AL596223.1   AL731537.1   ANAPC16   ANK3   ANK3-DT   ANXA11   ANXA7   AP3M1   ARID5B   ASAH2B   ASCC1   ATOH7   BICC1   BMPR1A   C10orf105   C10orf55   C10orf99   CABCOCO1   CAMK2G   CCAR1   CCDC6   CCEPR   CCSER2   CDH23   CDH23-AS1   CDHR1   CDK1   CERNA2   CFAP70   CHCHD1   CHST3   CISD1   COL13A1   COMTD1   CSTF2T   CTNNA3   DDIT4   DDX21   DDX50   DKK1   DLG5   DLG5-AS1   DNA2   DNAJB12   DNAJC12   DNAJC9   DNAJC9-AS1   DUSP13   DUSP29   DYDC1   DYDC2   ECD   EGR2   EIF4EBP2   EIF5AL1   FAM13C   FAM149B1   FAM241B   FAM25A   FUT11   GHITM   GLUD1   GRID1   GRID1-AS1   HERC4   HK1   HKDC1   HNRNPH3   IPMK   JMJD1C   JMJD1C-AS1   KAT6B   KCNMA1   KCNMA1-AS1   KCNMA1-AS2   KCNMA1-AS3   KIFBP   LDB3   LINC00595   LINC00844   LINC00845   LINC00856   LINC00857   LINC00858   LINC01515   LINC01519   LINC01520   LINC01553   LINC02621   LINC02622   LINC02636   LINC02647   LINC02650   LINC02651   LINC02655   LINC02671   LINC02672   LINC02679   LNCAROD   LNCAROD   LRIT1   LRIT2   LRMDA   LRRC20   LRRTM3   MACROH2A2   MAT1A   MBL2   MCU   MICU1   MIR1296   MIR346   MIR3924   MIR4676   MIR548F1   MIR605   MIR606   MIR7151   MIR7152   MMRN2   MRLN   MRPS16   MSS51   MTRNR2L5   MYOZ1   MYPN   NDST2   NEUROG3   NODAL   NPFFR1   NRBF2   NRG3   NRG3-AS1   NUDT13   NUTM2B   NUTM2B-AS1   NUTM2E   OIT3   OPN4   P4HA1   PALD1   PBLD   PCBD1   PCDH15   PHYHIPL   PLA2G12B   PLAC9   PLAU   POLR3A   PPA1   PPIF   PPP3CB   PPP3CB-AS1   PRF1   PRKG1   PRKG1-AS1   PRXL2A   PSAP   REEP3   RGR   RHOBTB1   RPS24   RTKN2   RUFY2   SAMD8   SAR1A   SEC24C   SFTPA1   SFTPA2   SFTPD   SGPL1   SH2D4B   SHLD2   SIRT1   SLC16A9   SLC25A16   SLC29A3   SNCG   SNORA11F   SNORD172   SNORD98   SPOCK2   SRGN   STOX1   SUPV3L1   SYNPO2L   TACR2   TBATA   TET1   TFAM   TMEM254   TMEM254-AS1   TMEM26   TMEM26-AS1   TRS-TGA1-1   TSPAN14   TSPAN15   TYSND1   UBE2D1   UNC5B   UNC5B-AS1   USP54   VCL   VDAC2   VPS26A   VSIR   WAPL   ZCCHC24   ZMIZ1   ZMIZ1-AS1   ZNF365   ZNF503   ZNF503-AS1   ZNF503-AS2   ZSWIM8   ZSWIM8-AS1   ZWINT  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_50729367)_(87147204_?)dup
NC_000010.10:g.(?_52489127)_(88906961_?)dup
NC_000010.9:g.(?_52159133)_(88896941_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381050,729,367 - 87,147,204CLINVAR
GRCh371052,489,127 - 88,906,961CLINVAR
Build 361052,159,133 - 88,896,941CLINVAR
Cytogenetic Map1010q11.23-23.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485556
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
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.