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

Variant : CV73648 (GRCh38/hg38 9p24.2(chr9:2452325-2700375)x1) Homo sapiens

Symbol: CV73648
Name: GRCh38/hg38 9p24.2(chr9:2452325-2700375)x1
Condition: Global developmental delay [RCV000052849]|See cases [RCV000052849]
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: VLDLR   VLDLR-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_2452325)_(2700375_?)del
NC_000009.11:g.(?_2452325)_(2700375_?)del
NC_000009.10:g.(?_2442325)_(2690375_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3892,452,325 - 2,700,375CLINVAR
GRCh3792,452,325 - 2,700,375CLINVAR
Build 3692,442,325 - 2,690,375CLINVAR
Cytogenetic Map99p24.2CLINVAR
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: 8619820
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE



NHLBI Logo

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