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Variant : CV158510 (GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3) Homo sapiens

Symbol: CV158510
Name: GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3
Condition: See cases [RCV000137825]
Clinical Significance: pathogenic
Last Evaluated: 06/01/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCA2   ADAMTSL2   AGPAT2   AJM1   ANAPC2   ARRDC1   ARRDC1-AS1   BRD3   BRD3OS   C8G   C9orf116   C9orf139   C9orf163   C9orf62   CACNA1B   CAMSAP1   CARD9   CCDC183   CCDC183-AS1   CCDC187   CLIC3   COL5A1   COL5A1-AS1   CYSRT1   DBH   DBH-AS1   DIPK1B   DNLZ   DPH7   DPP7   EDF1   EGFL7   EHMT1   ENTPD2   ENTPD8   ENTR1   EXD3   FAM163B   FAM166A   FBXW5   FCN1   FCN2   FUT7   GLT6D1   GPSM1   GRIN1   INPP5E   KCNT1   LCN1   LCN10   LCN12   LCN15   LCN6   LCN8   LCN9   LCNL1   LHX3   LINC01451   LINC01502   LINC02247   LINC02692   LINC02846   LRRC26   MAMDC4   MAN1B1   MAN1B1-DT   MIR126   MIR3621   MIR3689A   MIR3689B   MIR3689C   MIR3689D1   MIR3689D2   MIR3689E   MIR3689F   MIR4292   MIR4479   MIR4669   MIR4673   MIR4674   MIR602   MIR6722   MIR7114   MRPL41   MRPS2   MYMK   NACC2   NALT1   NDOR1   NELFB   NOTCH1   NOXA1   NPDC1   NRARP   NSMF   OBP2A   OLFM1   PAEP   PAXX   PHPT1   PMPCA   PNPLA7   PPP1R26   PPP1R26-AS1   PTGDS   QSOX2   RABL6   RNF208   RNF224   RNU6ATAC   RXRA   SAPCD2   SARDH   SEC16A   SLC34A3   SNAPC4   SNHG7   SNORA17A   SNORA17B   SOHLH1   SSNA1   STPG3   STPG3-AS1   TMEM141   TMEM203   TMEM210   TMEM250   TOR4A   TPRN   TRAF2   TUBB4B   UAP1L1   UBAC1   VAV2   WDR5   ZMYND19  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_133504071)_(138159073_?)dup
Human AssemblyChrPosition (strand)Source
GRCh389133,504,071 - 138,159,073 (+)CLINVAR
GRCh379136,324,358 - 141,053,525CLINVAR
Build 369135,314,179 - 140,173,346CLINVAR
Cytogenetic Map99q34.2-34.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9485377
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.