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Variant : CV75055 (GRCh38/hg38 17q11.2(chr17:30672816-31999939)x1) Homo sapiens

Symbol: CV75055
Name: GRCh38/hg38 17q11.2(chr17:30672816-31999939)x1
Condition: See cases [RCV000054361]
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.(?_30672816)_(31999939_?)del
NC_000017.10:g.(?_28999834)_(30326958_?)del
NC_000017.9:g.(?_26023960)_(27351071_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381730,672,816 - 31,999,939CLINVAR
GRCh371728,999,834 - 30,326,958CLINVAR
Build 361726,023,960 - 27,351,071CLINVAR
Cytogenetic Map1717q11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8621249
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.