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Variant : CV163666 (GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3) Homo sapiens

Symbol: CV163666
Name: GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3
Condition: See cases [RCV000142123]
Clinical Significance: uncertain significance
Last Evaluated: 09/01/2017
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAP2   ATAD5   COPRS   CRLF3   EVI2A   EVI2B   LRRC37B   MIR193A   MIR365B   MIR4724   MIR4725   MIR4733   NF1   OMG   RAB11FIP4   RNF135   SUZ12   TEFM   TRT-CGT4-1   UTP6  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_30677603)_(32071701_?)dup
NC_000017.10:g.(?_29004621)_(30398720_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381730,677,603 - 32,071,701CLINVAR
GRCh371729,004,621 - 30,398,720CLINVAR
Build 361726,028,747 - 27,422,833CLINVAR
Cytogenetic Map1717q11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9489642
Created: 2014-09-09
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.