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Variant : CV153989 (GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3) Homo sapiens

Symbol: CV153989
Name: GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3
Condition: See cases [RCV000133720]
Clinical Significance: pathogenic
Last Evaluated: 05/27/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADHFE1   ALKAL1   ARFGEF1   ARMC1   ASPH   ATP6V1H   BHLHE22   BPNT2   C8orf34   C8orf34-AS1   C8orf44   C8orf44-SGK3   CA8   CEBPD   CERNA3   CHCHD7   CHD7   CLVS1   COPS5   CPA6   CRH   CSPP1   CYP7A1   CYP7B1   DNAJC5B   EFCAB1   FAM110B   GGH   IGLV8OR8-1   LINC00251   LINC00293   LINC00588   LINC00967   LINC00968   LINC01289   LINC01299   LINC01301   LINC01414   LINC01592   LINC01602   LINC01606   LINC02155   LINC02842   LINC02847   LYN   LYPLA1   MCM4   MCMDC2   MIR124-2   MIR124-2HG   MIR4470   MOS   MRPL15   MTFR1   MYBL1   NKAIN3   NPBWR1   NSMAF   OPRK1   PCMTD1   PDE7A   PENK   PLAG1   PPDPFL   PPP1R42   PREX2   PRKDC   PXDNL   RAB2A   RB1CC1   RGS20   RNU105C   RP1   RPS20   RRS1   RRS1-AS1   SDCBP   SDR16C5   SGK3   SNAI2   SNHG6   SNORA1B   SNORD54   SNORD87   SNTG1   SOX17   SPIDR   ST18   TCEA1   TCF24   TGS1   TMEM68   TOX   TRA-AGC8-2   TRIM55   TRY-GTA5-1   TRY-GTA5-2   TTPA   UBE2V2   UBXN2B   VCPIP1   VXN   XKR4   YTHDF3   YTHDF3-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_46031334)_(69303787_?)dup
NC_000008.10:g.(?_46942956)_(70216022_?)dup
NC_000008.9:g.(?_47062121)_(70378576_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38846,031,334 - 69,303,787CLINVAR
GRCh37846,942,956 - 70,216,022CLINVAR
Build 36847,062,121 - 70,378,576CLINVAR
Cytogenetic Map88q11.1-13.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9481305
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.