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Variant : CV161261 (GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1) Homo sapiens

Symbol: CV161261
Name: GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1
Condition: See cases [RCV000140221]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by 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 loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_30684919)_(32021402_?)del
NC_000017.10:g.(?_29011937)_(30348421_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381730,684,919 - 32,021,402CLINVAR
GRCh371729,011,937 - 30,348,421CLINVAR
Build 361726,036,063 - 27,372,534CLINVAR
Cytogenetic Map1717q11.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9487751
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.