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Variant : CV71799 (GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1) Homo sapiens

Symbol: CV71799
Name: GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1
Condition: See cases [RCV000050860]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANGPTL2   CFAP157   GARNL3   LMX1B   LRSAM1   MIR3911   MVB12B   NIBAN2   NRON   PTRH1   RALGPS1   RPL12   SH2D3C   SLC2A8   SNORA65   STXBP1   TOR2A   TTC16   ZBTB34   ZBTB43   ZNF79  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_126081595)_(127781685_?)del
NC_000009.11:g.(?_128843874)_(130543964_?)del
NC_000009.10:g.(?_127883695)_(129583785_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh389126,081,595 - 127,781,685CLINVAR
GRCh379128,843,874 - 130,543,964CLINVAR
Build 369127,883,695 - 129,583,785CLINVAR
Cytogenetic Map99q33.3-34.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617928
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.