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Variant : CV71688 (GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1) Homo sapiens

Symbol: CV71688
Name: GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1
Condition: Global developmental delay [RCV000050706]|See cases [RCV000050706]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARTN   ATP6V0B   B4GALT2   C1orf210   C1orf50   CCDC24   CCDC30   CDC20   CFAP57   CITED4   CLDN19   CTPS1   DMAP1   DPH2   EBNA1BP2   EDN2   ELOVL1   ERI3   ERI3-IT1   ERMAP   FAM183A   FOXJ3   FOXO6   FOXO6-AS1   GUCA2A   GUCA2B   HIVEP3   HYI   IPO13   KCNQ4   KDM4A   KDM4A-AS1   KLF17   KLF18   MED8   MIR30C1   MIR30E   MIR6079   MIR6733   MIR6734   MIR6735   MPL   NFYC   P3H1   PPCS   PPIH   PTPRF   RIMKLA   RNF220   SCMH1   SLC2A1   SLC2A1-AS1   SLC6A9   SLFNL1   SLFNL1-AS1   SNORA110   ST3GAL3   SVBP   SZT2   SZT2-AS1   TIE1   TMEM125   TMEM269   TMEM269-DT   YBX1   ZMYND12   ZNF691  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_40693289)_(44514104_?)del
NC_000001.10:g.(?_41158961)_(44979776_?)del
NC_000001.9:g.(?_40931548)_(44752363_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38140,693,289 - 44,514,104CLINVAR
GRCh37141,158,961 - 44,979,776CLINVAR
Build 36140,931,548 - 44,752,363CLINVAR
Cytogenetic Map11p34.2-34.1CLINVAR
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: 8617796
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.