Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV72734 (GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3) Homo sapiens

Symbol: CV72734
Name: GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3
Condition: See cases [RCV000051884]
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)
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_30667972)_(32023858_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381730,667,972 - 32,023,858CLINVAR
GRCh371728,994,990 - 30,350,877CLINVAR
Build 361726,019,116 - 27,374,990CLINVAR
Cytogenetic Map1717q11.2CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8618895
Created: 2014-05-13
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.