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Variant : CV73485 (GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1) Homo sapiens

Symbol: CV73485
Name: GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACCS   ACCSL   ACP2   AGBL2   ALKBH3   ALKBH3-AS1   ALX4   AMBRA1   API5   ARFGAP2   ARHGAP1   ATG13   C11orf49   C11orf94   C11orf96   C1QTNF4   CD82   CELF1   CHRM4   CHST1   CKAP5   CREB3L1   CRY2   DDB2   DGKZ   EXT2   F2   FAM180B   FNBP4   HARBI1   HSD17B12   IFTAP   KBTBD4   LARGE2   LINC01493   LINC01499   LINC02489   LINC02687   LRP4   LRP4-AS1   LRRC4C   MADD   MAPK8IP1   MDK   MIR129-2   MIR3160-1   MIR3160-2   MIR3161   MIR4487   MIR4688   MIR5582   MIR670   MIR670HG   MIR6745   MIR7154   MTCH2   MYBPC3   NDUFS3   NR1H3   NUP160   OR4A47   OR4B1   OR4C3   OR4C5   OR4S1   OR4X1   OR4X2   PACSIN3   PEX16   PHF21A   PRDM11   PSMC3   PTPMT1   PTPRJ   RAG1   RAG2   RAPSN   SLC35C1   SLC39A13   SNORD67   SPI1   SYT13   TP53I11   TRAF6   TSPAN18   TTC17   ZNF408  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_36508280)_(48643003_?)del
NC_000011.9:g.(?_36529830)_(48664555_?)del
NC_000011.8:g.(?_36486406)_(48621131_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381136,508,280 - 48,643,003CLINVAR
GRCh371136,529,830 - 48,664,555CLINVAR
Build 361136,486,406 - 48,621,131CLINVAR
Cytogenetic Map1111p12-11.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619655
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.