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Variant : CV155830 (GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1) Homo sapiens

Symbol: CV155830
Name: GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1
Condition: See cases [RCV000135405]
Clinical Significance: pathogenic
Last Evaluated: 07/30/2009
Review Status: classified by 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   KBTBD4   LARGE2   LINC01499   LINC02489   LINC02685   LINC02687   LINC02690   LINC02696   LINC02704   LINC02710   LINC02716   LINC02740   LINC02741   LINC02745   LRP4   LRP4-AS1   LRRC4C   MADD   MADD-AS1   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   RAPSN   SLC35C1   SLC39A13   SNORD67   SPI1   SYT13   TP53I11   TSPAN18   TTC17   ZNF408  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_41118322)_(48643003_?)del
Human AssemblyChrPosition (strand)Source
GRCh381141,118,322 - 48,643,003CLINVAR
GRCh371141,139,872 - 48,664,555CLINVAR
Build 361141,096,448 - 48,621,131CLINVAR
Cytogenetic Map1111p12-11.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9482978
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.