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Variant : CV71631 (GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3) Homo sapiens

Symbol: CV71631
Name: GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3
Condition: See cases [RCV000050627]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCG4   APOA1   APOA1-AS   APOA4   APOA5   APOC3   ARCN1   ARHGEF12   ATP5MG   BACE1   BACE1-AS   BCL9L   BUD13   C11orf71   C1QTNF5   C2CD2L   CADM1   CBL   CCDC153   CCDC84   CD3D   CD3E   CD3G   CEP164   CLDN25   CXCR5   DDX6   DPAGT1   DRD2   DSCAML1   FOXR1   FRA11B   FXYD2   FXYD6   FXYD6-FXYD2   GRIK4   H2AX   HINFP   HMBS   HTR3A   HTR3B   HYOU1   IFT46   IL10RA   JAML   KMT2A   LINC00900   LINC02702   LINC02703   LINC02744   MCAM   MFRP   MIR4301   MIR4492   MIR6716   MIR6756   MPZL2   MPZL3   NECTIN1   NECTIN1-AS1   NLRX1   NNMT   NXPE1   NXPE2   NXPE4   OAF   PAFAH1B2   PCSK7   PDZD3   PHLDB1   POU2F3   RBM7   REXO2   RNF214   RNF26   RPS25   SCN2B   SCN4B   SIDT2   SIK3   SLC37A4   SMIM35   SNORD150   TAGLN   THY1   TLCD5   TMEM25   TMPRSS13   TMPRSS4   TMPRSS5   TRAPPC4   TREH   TRIM29   TTC36   UBE4A   UPK2   USP2   USP2-AS1   USP28   VPS11   ZBTB16   ZPR1   ZW10  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_113444446)_(120648921_?)dup
NC_000011.9:g.(?_113315168)_(120519630_?)dup
NC_000011.8:g.(?_112820378)_(120024840_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811113,444,446 - 120,648,921CLINVAR
GRCh3711113,315,168 - 120,519,630CLINVAR
Build 3611112,820,378 - 120,024,840CLINVAR
Cytogenetic Map1111q23.2-23.3CLINVAR
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
 
RGD Object Information
RGD ID: 8617731
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-05-19
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.