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

Variant : CV71928 (GRCh38/hg38 2q22.1-22.3(chr2:140186521-146528244)x1) Homo sapiens

Symbol: CV71928
Name: GRCh38/hg38 2q22.1-22.3(chr2:140186521-146528244)x1
Condition: Global developmental delay [RCV000051018]|See cases [RCV000051018]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARHGAP15   ARHGAP15-AS1   GTDC1   KYNU   LINC01412   LINC01966   LRP1B   MIR7157   TEX41   ZEB2   ZEB2-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_140186521)_(146528244_?)del
NC_000002.11:g.(?_140944090)_(147285812_?)del
NC_000002.10:g.(?_140660560)_(147002282_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382140,186,521 - 146,528,244CLINVAR
GRCh372140,944,090 - 147,285,812CLINVAR
Build 362140,660,560 - 147,002,282CLINVAR
Cytogenetic Map22q22.1-22.3CLINVAR
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: 8618069
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

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