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Variant : CV42516 (GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3) Homo sapiens

Symbol: CV42516
Name: GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050364]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050364]|See cases [RCV000050364]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: CCDC81   CCDC83   CCDC89   CREBZF   DLG2   EED   HIKESHI   ME3   MIR6755   PICALM   SYTL2   TMEM126A   TMEM126B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_84828563)_(86641166_?)dup
NC_000011.9:g.(?_84539606)_(86352208_?)dup
NC_000011.8:g.(?_84217254)_(86029856_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381184,828,563 - 86,641,166CLINVAR
GRCh371184,539,606 - 86,352,208CLINVAR
Build 361184,217,254 - 86,029,856CLINVAR
Cytogenetic Map1111q14.1-14.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617617
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.