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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)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_140186521)_(146528244_?)del
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


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