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Variant : CV74522 (GRCh38/hg38 13q34(chr13:111439396-114327173)x3) Homo sapiens

Symbol: CV74522
Name: GRCh38/hg38 13q34(chr13:111439396-114327173)x3
Condition: Global developmental delay [RCV000053798]|See cases [RCV000053798]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADPRHL1   ATP11A   ATP11A-AS1   ATP11AUN   ATP4B   C13orf46   CDC16   CFAP97D2   CHAMP1   CUL4A   DCUN1D2   F10   F10-AS1   F7   GAS6   GAS6-AS1   GAS6-DT   GRK1   GRTP1   GRTP1-AS1   LAMP1   LINC00354   LINC00452   LINC00454   LINC00552   LINC00565   LINC01043   LINC01044   LINC01070   LINC02337   LOC101928841   MCF2L   MCF2L-AS1   MIR4502   MIR548AR   MIR8075   PCID2   PROZ   RASA3   SOX1   SOX1-OT   SPACA7   TFDP1   TMCO3   TMEM255B   TUBGCP3   UPF3A  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_111439396)_(114327173_?)dup
Human AssemblyChrPosition (strand)Source
GRCh3813111,439,396 - 114,327,173CLINVAR
GRCh3713112,091,743 - 115,085,141CLINVAR
Build 3613110,889,744 - 114,110,750CLINVAR
Cytogenetic Map1313q34CLINVAR
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: 8620713
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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