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Variant : CV73720 (GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1) Homo sapiens

Symbol: CV73720
Name: GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1
Condition: See cases [RCV000052923]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AK1   AL161785.1   AL162586.1   AL441992.2   ANGPTL2   ASB6   C9orf106   C9orf16   C9orf50   CDK9   CERCAM   CFAP157   CIZ1   COQ4   CRAT   DNM1   DOLK   DOLPP1   DPM2   DYNC2I2   ENDOG   ENG   FAM102A   FPGS   GARNL3   GLE1   GOLGA2   IER5L   KYAT1   LCN2   LINC00963   LINC01503   LMX1B   LRRC8A   LRSAM1   MIGA2   MIR199B   MIR219A2   MIR219B   MIR2861   MIR3154   MIR3911   MIR3960   MIR4672   MVB12B   NAIF1   NIBAN2   NRON   NTMT1   NUP188   ODF2   PHYHD1   PIP5KL1   PKN3   PRRX2   PTGES2   PTGES2-AS1   PTPA   PTRH1   RALGPS1   RPL12   SET   SH2D3C   SH3GLB2   SLC25A25   SLC25A25-AS1   SLC27A4   SLC2A8   SNORA65   SPOUT1   SPTAN1   ST6GALNAC4   ST6GALNAC6   STXBP1   SWI5   TBC1D13   TOR2A   TRR-TCT3-1   TRUB2   TTC16   URM1   ZBTB34   ZBTB43   ZDHHC12   ZER1   ZNF79  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_125993583)_(129682375_?)del
NC_000009.11:g.(?_128755862)_(132444654_?)del
NC_000009.10:g.(?_127795683)_(131484475_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh389125,993,583 - 129,682,375CLINVAR
GRCh379128,755,862 - 132,444,654CLINVAR
Build 369127,795,683 - 131,484,475CLINVAR
Cytogenetic Map99q33.3-34.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619893
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
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.