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Variant : CV383298 (GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3) Homo sapiens

Symbol: CV383298
Name: GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3
Condition: See cases [RCV000448603]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABTB2   ACCS   ACCSL   ACP2   AGBL2   ALKBH3   ALX4   AMBRA1   ANO3   API5   APIP   ARFGAP2   ARHGAP1   ARL14EP   ATG13   BBOX1   BDNF   BDNF-AS   C11orf49   C11orf91   C11orf94   C11orf96   C1QTNF4   CAPRIN1   CAT   CCDC34   CCDC73   CD44   CD59   CD82   CELF1   CHRM4   CHST1   CKAP5   COMMD9   CREB3L1   CRY2   CSTF3   DCDC1   DDB2   DEPDC7   DGKZ   DNAJC24   EHF   EIF3M   ELF5   ELP4   EXT2   F2   FAM180B   FBXO3   FIBIN   FJX1   FNBP4   FOLH1   FSHB   HARBI1   HIPK3   HSD17B12   IFTAP   IMMP1L   KBTBD4   KCNA4   KIAA1549L   KIF18A   LARGE2   LDLRAD3   LGR4   LIN7C   LINC00294   LMO2   LRP4   LRRC4C   MADD   MADD-AS1   MAPK8IP1   MDK   METTL15   MIR610   MPPED2   MTCH2   MUC15   MYBPC3   NAT10   NDUFS3   NR1H3   NUP160   OR4A47   OR4B1   OR4C12   OR4C13   OR4C3   OR4S1   OR4X1   OR4X2   PACSIN3   PAMR1   PAX6   PDHX   PEX16   PHF21A   PRDM11   PRR5L   PRRG4   PSMC3   PTPMT1   PTPRJ   QSER1   RAG1   RAG2   RAPSN   RCN1   SLC1A2   SLC35C1   SLC39A13   SLC5A12   SPI1   SYT13   TCP11L1   TP53I11   TRAF6   TRIM44   TRIM49B   TRIM64C   TSPAN18   TTC17   WT1   WT1-AS   ZNF408  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371126,574,629 - 50,508,019CLINVAR
Cytogenetic Map1111p14.2-11.12CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 12853309
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


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