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Variant : CV74538 (GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3) Homo sapiens

Symbol: CV74538
Name: GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053814]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053814]|See cases [RCV000053814]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCA2   AGPAT2   AJM1   ANAPC2   ARRDC1   ARRDC1-AS1   C8G   C9orf116   C9orf139   C9orf163   C9orf62   CACNA1B   CAMSAP1   CARD9   CCDC183   CCDC183-AS1   CCDC187   CLIC3   COL5A1   COL5A1-AS1   CYSRT1   DIPK1B   DNLZ   DPH7   DPP7   EDF1   EGFL7   EHMT1   ENTPD2   ENTPD8   ENTR1   EXD3   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   NACC2   NALT1   NDOR1   NELFB   NOTCH1   NOXA1   NPDC1   NRARP   NSMF   OBP2A   OLFM1   PAEP   PAXX   PHPT1   PMPCA   PNPLA7   PPP1R26   PPP1R26-AS1   PTGDS   QSOX2   RABL6   RNF208   RNF224   RXRA   SAPCD2   SEC16A   SLC34A3   SNAPC4   SNHG7   SNORA17A   SNORA17B   SOHLH1   SSNA1   STPG3   STPG3-AS1   TMEM141   TMEM203   TMEM210   TMEM250   TOR4A   TPRN   TRAF2   TUBB4B   UAP1L1   UBAC1   ZMYND19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_134174698)_(138138735_?)dup
NC_000009.11:g.(?_137091194)_(141033187_?)dup
NC_000009.10:g.(?_136029641)_(140153008_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh389134,174,698 - 138,138,735CLINVAR
GRCh379137,091,194 - 141,033,187CLINVAR
Build 369136,029,641 - 140,153,008CLINVAR
Cytogenetic Map99q34.2-34.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620729
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.