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Variant : CV158472 (GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1) Homo sapiens

Symbol: CV158472
Name: GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1
Condition: See cases [RCV000137787]
Clinical Significance: pathogenic
Last Evaluated: 09/20/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AK1   AL162586.1   ANGPTL2   C9orf16   CDK9   CERCAM   CFAP157   CIZ1   COQ4   DNM1   DPM2   DYNC2I2   ENG   FAM102A   FPGS   GAPVD1   GARNL3   GLE1   GOLGA2   HSPA5   LCN2   LMX1B   LRSAM1   MAPKAP1   MIR199B   MIR219A2   MIR219B   MIR2861   MIR3154   MIR3911   MIR3960   MIR4672   MVB12B   NAIF1   NIBAN2   NRON   ODF2   PBX3   PIP5KL1   PPP6C   PTGES2   PTGES2-AS1   PTRH1   RABEPK   RALGPS1   RPL12   SCAI   SH2D3C   SLC25A25   SLC25A25-AS1   SLC27A4   SLC2A8   SNORA65   SPTAN1   ST6GALNAC4   ST6GALNAC6   STXBP1   SWI5   TOR2A   TRR-TCT3-1   TRUB2   TTC16   URM1   ZBTB34   ZBTB43   ZNF79  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_125055865)_(128637946_?)del
NC_000009.11:g.(?_127818144)_(131400225_?)del
NC_000009.10:g.(?_126857965)_(130440046_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh389125,055,865 - 128,637,946CLINVAR
GRCh379127,818,144 - 131,400,225CLINVAR
Build 369126,857,965 - 130,440,046CLINVAR
Cytogenetic Map99q33.3-34.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485339
Created: 2014-09-09
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.