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Variant : CV75056 (GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1) Homo sapiens

Symbol: CV75056
Name: GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1
Condition: See cases [RCV000054362]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAP2   ATAD5   COPRS   CRLF3   EVI2A   EVI2B   MIR193A   MIR365B   MIR4724   MIR4725   MIR4733   NF1   OMG   RAB11FIP4   RNF135   SUZ12   TEFM   TRT-CGT4-1   UTP6  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_30706863)_(31994624_?)del
NC_000017.10:g.(?_29033881)_(30321643_?)del
NC_000017.9:g.(?_26058007)_(27345756_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381730,706,863 - 31,994,624CLINVAR
GRCh371729,033,881 - 30,321,643CLINVAR
Build 361726,058,007 - 27,345,756CLINVAR
Cytogenetic Map1717q11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8621250
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
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.