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Variant : CV155232 (GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3) Homo sapiens

Symbol: CV155232
Name: GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3
Condition: See cases [RCV000134848]
Clinical Significance: pathogenic
Last Evaluated: 09/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: A1CF   AC024597.1   ADAMTS14   ADO   AGAP4   AGAP5   AGAP6   AGAP9   AIFM2   AL353784.1   AL596223.1   AL731537.1   AL731567.1   ALOX5   ANAPC16   ANK3   ANK3-DT   ANTXRL   ANXA7   ANXA8   ANXA8L1   ARHGAP22   ARHGAP22-IT1   ARID5B   ASAH2   ASAH2B   ASCC1   ATOH7   BICC1   BMS1   C10orf105   C10orf53   C10orf71   C10orf71-AS1   CABCOCO1   CCAR1   CCDC6   CCEPR   CDH23   CDH23-AS1   CDK1   CFAP70   CHAT   CHST3   CISD1   COL13A1   CSGALNACT2   CSTF2T   CTNNA3   CXCL12   DDIT4   DDX21   DDX50   DEPP1   DKK1   DNA2   DNAJB12   DNAJC12   DNAJC9   DNAJC9-AS1   DRGX   ECD   EGR2   EIF4EBP2   ERCC6   FAM13C   FAM149B1   FAM170B   FAM170B-AS1   FAM241B   FAM245B   FAM25C   FAM25E   FAM25G   FRMPD2   FXYD4   GDF10   GDF2   GPRIN2   HERC4   HK1   HKDC1   HNRNPF   HNRNPH3   IPMK   JMJD1C   JMJD1C-AS1   KIFBP   LINC00619   LINC00840   LINC00841   LINC00842   LINC00844   LINC00845   LINC01264   LINC01515   LINC01518   LINC01553   LINC02621   LINC02622   LINC02623   LINC02636   LINC02637   LINC02651   LINC02658   LINC02659   LINC02671   LINC02672   LINC02881   LNCAROD   LNCAROD   LRRC18   LRRC20   LRRTM3   MACROH2A2   MAPK8   MARCHF8   MBL2   MCU   MICU1   MIR1296   MIR3156-1   MIR3924   MIR4294   MIR4676   MIR5100   MIR548F1   MIR605   MIR7151   MIR7152   MRLN   MRPS16   MSMB   MSS51   MTRNR2L5   MYOZ1   MYPN   NCOA4   NEUROG3   NODAL   NPFFR1   NPY4R   NPY4R2   NRBF2   NUDT13   OGDHL   OIT3   OR13A1   P4HA1   PALD1   PARG   PBLD   PCBD1   PCDH15   PGBD3   PHYHIPL   PLA2G12B   PPA1   PPP3CB   PPP3CB-AS1   PRF1   PRKG1   PRKG1-AS1   PSAP   PTPN20   RASGEF1A   RASSF4   RBP3   REEP3   RET   RHOBTB1   RTKN2   RUFY2   SAR1A   SGMS1   SGMS1-AS1   SGPL1   SIRT1   SLC16A9   SLC18A3   SLC25A16   SLC29A3   SNORA11F   SNORA74C-1   SNORA74C-2   SNORD3J   SNORD98   SPOCK2   SRGN   STOX1   SUPV3L1   SYNPO2L   SYT15   SYT15   TACR2   TBATA   TET1   TFAM   TIMM23   TIMM23B   TIMM23B-AGAP6   TMEM26   TMEM26-AS1   TMEM273   TMEM72   TMEM72-AS1   TRS-TGA1-1   TSPAN15   TYSND1   UBE2D1   UNC5B   UNC5B-AS1   USP54   VPS26A   VSIR   VSTM4   WASHC2A   WASHC2C   WDFY4   ZFAND4   ZNF22   ZNF22-AS1   ZNF239   ZNF32   ZNF32-AS1   ZNF32-AS2   ZNF32-AS3   ZNF365   ZNF485   ZNF487   ZNF488   ZWINT  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_42685306)_(73715908_?)dup
NC_000010.10:g.(?_43180754)_(75475666_?)dup
NC_000010.9:g.(?_42500760)_(75145672_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381042,685,306 - 73,715,908CLINVAR
GRCh371043,180,754 - 75,475,666CLINVAR
Build 361042,500,760 - 75,145,672CLINVAR
Cytogenetic Map1010q11.21-22.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9482424
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.