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Variant : CV163487 (GRCh38/hg38 17q11.2(chr17:30625268-32059496)x1) Homo sapiens

Symbol: CV163487
Name: GRCh38/hg38 17q11.2(chr17:30625268-32059496)x1
Condition: See cases [RCV000142020]
Clinical Significance: pathogenic
Last Evaluated: 08/26/2013
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)
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_30625268)_(32059496_?)del
Human AssemblyChrPosition (strand)Source
GRCh381730,625,268 - 32,059,496CLINVAR
GRCh371728,952,286 - 30,386,515CLINVAR
Build 361725,976,412 - 27,410,628CLINVAR
Cytogenetic Map1717q11.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489540
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.