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Variant : CV74503 (GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3) Homo sapiens

Symbol: CV74503
Name: GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053779]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053779]|See cases [RCV000053779]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABL1   ABO   ADAMTS13   ADAMTSL2   AIF1L   AK8   ASB6   ASS1   BARHL1   BRD3   BRD3OS   C9orf106   C9orf116   C9orf163   C9orf50   C9orf62   C9orf78   CACFD1   CAMSAP1   CARD9   CCDC187   CEL   CFAP77   COL5A1   COL5A1-AS1   CRAT   DBH   DBH-AS1   DDX31   DNLZ   DOLPP1   ENTR1   EXOSC2   FAM163B   FAM78A   FCN1   FCN2   FIBCD1   FNBP1   FUBP3   GBGT1   GFI1B   GLT6D1   GPR107   GPRACR   GPSM1   GTF3C4   GTF3C5   HMCN2   IER5L   INPP5E   KCNT1   LAMC3   LCN1   LCN9   LHX3   LINC00963   LINC01502   LINC01503   LINC02247   LINC02846   MED22   MED27   MIGA2   MIR12126   MIR3689A   MIR3689B   MIR3689C   MIR3689D1   MIR3689D2   MIR3689E   MIR3689F   MIR4669   MIR548AW   MIR6855   MIR6856   MIR6877   MRPS2   MYMK   NACC2   NCS1   NOTCH1   NTMT1   NTNG2   NUP214   OBP2A   OBP2B   OLFM1   PAEP   PLPP7   PMPCA   POMT1   PPP1R26   PPP1R26-AS1   PRDM12   PRRC2B   PRRT1B   PRRX2   PRRX2-AS1   PTGES   PTPA   QRFP   QSOX2   RALGDS   RAPGEF1   REXO4   RNU6ATAC   RPL7A   RXRA   SARDH   SEC16A   SETX   SLC2A6   SNAPC4   SNORD141A   SNORD24   SNORD36A   SNORD36B   SNORD36C   SNORD62A   SNORD62B   SOHLH1   SPACA9   STKLD1   SURF1   SURF2   SURF4   SURF6   TMEM250   TOR1A   TOR1B   TSC1   TTF1   UBAC1   UCK1   USP20   VAV2   WDR5  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_129068560)_(136495351_?)dup
NC_000009.11:g.(?_131830839)_(139389803_?)dup
NC_000009.10:g.(?_130870660)_(138509624_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh389129,068,560 - 136,495,351CLINVAR
GRCh379131,830,839 - 139,389,803CLINVAR
Build 369130,870,660 - 138,509,624CLINVAR
Cytogenetic Map99q34.11-34.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620694
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
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.