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

Variant : CV73651 (GRCh38/hg38 22q12.1(chr22:27557778-28988149)x3) Homo sapiens

Symbol: CV73651
Name: GRCh38/hg38 22q12.1(chr22:27557778-28988149)x3
Condition: Global developmental delay [RCV000052852]|See cases [RCV000052852]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CCDC117   CHEK2   HSCB   MIR3199-1   MIR3199-2   MIR5739   MN1   PITPNB   TTC28   TTC28-AS1   XBP1   ZNRF3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_27557778)_(28988149_?)dup
NC_000022.10:g.(?_27953739)_(29384137_?)dup
NC_000022.9:g.(?_26283739)_(27714137_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382227,557,778 - 28,988,149CLINVAR
GRCh372227,953,739 - 29,384,137CLINVAR
Build 362226,283,739 - 27,714,137CLINVAR
Cytogenetic Map2222q12.1CLINVAR
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: 8619823
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

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