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Variant : CV71845 (GRCh38/hg38 Yp11.32-11.2(chrY:10679-1339321)x0) Homo sapiens

Symbol: CV71845
Name: GRCh38/hg38 Yp11.32-11.2(chrY:10679-1339321)x0
Condition: Global developmental delay [RCV000050918]|See cases [RCV000050918]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CRLF2   CSF2RA   GTPBP6   IL3RA   LINC00685   MIR3690   PLCXD1   PPP2R3B   SHOX  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000024.10:g.(?_10679)_(1339321_?)del
NC_000024.9:g.(?_10679)_(1408214_?)del
NC_000024.8:g.(?_679)_(1418214_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38Y10,679 - 1,339,321CLINVAR
GRCh37Y10,679 - 1,408,214CLINVAR
Build 36Y679 - 1,418,214CLINVAR
Cytogenetic MapYYp11.32-11.2CLINVAR
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: 8617979
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.