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Variant : CV74309 (GRCh38/hg38 7q31.1-31.2(chr7:113569777-115093349)x3) Homo sapiens

Symbol: CV74309
Name: GRCh38/hg38 7q31.1-31.2(chr7:113569777-115093349)x3
Condition: Global developmental delay [RCV000053574]|See cases [RCV000053574]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: FOXP2   LINC01393   MDFIC   MIR3666   PPP1R3A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_113569777)_(115093349_?)dup
NC_000007.13:g.(?_113209832)_(114733403_?)dup
NC_000007.12:g.(?_112997068)_(114520639_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh387113,569,777 - 115,093,349CLINVAR
GRCh377113,209,832 - 114,733,403CLINVAR
Build 367112,997,068 - 114,520,639CLINVAR
Cytogenetic Map77q31.1-31.2CLINVAR
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
 
CRRD Object Information
CRRD ID: 8620497
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
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.