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Variant : CV73350 (GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1) Homo sapiens

Symbol: CV73350
Name: GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1
Condition: Global developmental delay [RCV000052542]|See cases [RCV000052542]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADIRF   ADIRF-AS1   AGAP11   ANXA11   BMPR1A   C10orf99   CCSER2   CDHR1   CERNA2   DYDC1   DYDC2   FAM25A   GHITM   GLUD1   GRID1   GRID1-AS1   LDB3   LINC00857   LINC00858   LINC00863   LINC01519   LINC01520   LINC02647   LINC02650   LINC02655   LRIT1   LRIT2   MAT1A   MIR346   MMRN2   NRG3   NRG3-AS1   NUTM2A   NUTM2A-AS1   NUTM2D   OPN4   PLAC9   PRXL2A   RGR   SFTPD   SH2D4B   SHLD2   SNCG   TMEM254   TMEM254-AS1   TSPAN14   WAPL  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_79898516)_(87358394_?)del
NC_000010.10:g.(?_81658272)_(89118151_?)del
NC_000010.9:g.(?_81648252)_(89108131_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381079,898,516 - 87,358,394CLINVAR
GRCh371081,658,272 - 89,118,151CLINVAR
Build 361081,648,252 - 89,108,131CLINVAR
Cytogenetic Map1010q22.3-23.2CLINVAR
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
 
CRRD Object Information
CRRD ID: 8619519
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.