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Variant : CV72731 (GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3) Homo sapiens

Symbol: CV72731
Name: GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3
Condition: See cases [RCV000051881]
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   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.(?_30630734)_(32088380_?)dup
NC_000017.10:g.(?_28957752)_(30415399_?)dup
NC_000017.9:g.(?_25981878)_(27439512_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381730,630,734 - 32,088,380CLINVAR
GRCh371728,957,752 - 30,415,399CLINVAR
Build 361725,981,878 - 27,439,512CLINVAR
Cytogenetic Map1717q11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618892
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
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.