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Variant : CV155866 (GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3) Homo sapiens

Symbol: CV155866
Name: GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3
Condition: See cases [RCV000135438]
Clinical Significance: pathogenic
Last Evaluated: 07/30/2009
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAMTS14   ADK   AGAP5   AIFM2   ANAPC16   ANXA7   AP3M1   ASCC1   ATOH7   C10orf105   C10orf55   CAMK2G   CCAR1   CDH23   CDH23-AS1   CFAP70   CHCHD1   CHST3   COL13A1   COMTD1   CTNNA3   DDIT4   DDX21   DDX50   DLG5   DLG5-AS1   DNA2   DNAJB12   DNAJC12   DNAJC9   DNAJC9-AS1   DUPD1   DUSP13   ECD   EIF4EBP2   FAM149B1   FAM241B   FUT11   HERC4   HK1   HKDC1   HNRNPH3   KAT6B   KCNMA1   KCNMA1-AS1   KCNMA1-AS2   KCNMA1-AS3   KIFBP   LINC00595   LINC00856   LINC02622   LINC02636   LINC02651   LRMDA   LRRC20   MACROH2A2   MCU   MICU1   MIR4676   MIR606   MIR7151   MIR7152   MRPS16   MSS51   MYOZ1   MYPN   NDST2   NEUROG3   NODAL   NPFFR1   NUDT13   OIT3   P4HA1   PALD1   PBLD   PCBD1   PLA2G12B   PLAU   POLR3A   PPA1   PPIF   PPP3CB   PPP3CB-AS1   PRF1   PSAP   RPS24   RUFY2   SAMD8   SAR1A   SEC24C   SGPL1   SIRT1   SLC25A16   SLC29A3   SNORA11F   SNORD172   SNORD98   SPOCK2   SRGN   STOX1   SUPV3L1   SYNPO2L   TACR2   TBATA   TET1   TRS-TGA1-1   TSPAN15   TYSND1   UNC5B   UNC5B-AS1   USP54   VCL   VDAC2   VPS26A   VSIR   ZCCHC24   ZMIZ1   ZMIZ1-AS1   ZNF503   ZNF503-AS1   ZNF503-AS2   ZSWIM8   ZSWIM8-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_67196567)_(79422057_?)dup
NC_000010.10:g.(?_68956325)_(81181813_?)dup
NC_000010.9:g.(?_68626331)_(80851819_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381067,196,567 - 79,422,057CLINVAR
GRCh371068,956,325 - 81,181,813CLINVAR
Build 361068,626,331 - 80,851,819CLINVAR
Cytogenetic Map1010q21.3-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9483011
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
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.