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Variant : CV247853 (GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3) Homo sapiens

Symbol: CV247853
Name: GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3
Condition: See cases [RCV000240150]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ABCC4   ABHD13   ACOD1   ADPRHL1   AKAP11   ALG11   ALG5   ALOX5AP   AMER2   ANKRD10   ANKRD10-IT1   ARGLU1   ARHGEF7   ARL11   ATP11A   ATP11AUN   ATP12A   ATP4B   ATP7B   ATP8A2   ATXN8OS   B3GLCT   BIVM   BIVM-ERCC5   BORA   BRCA2   C1QTNF9   C1QTNF9B   CAB39L   CARS2   CBY2   CCDC122   CCDC168   CCDC169   CCDC169-SOHLH2   CCDC70   CCNA1   CDADC1   CDC16   CDK8   CDX2   CENPJ   CHAMP1   CKAP2   CLDN10   CLN5   CLYBL   CNMD   COG3   COG6   COL4A1   COL4A2   COMMD6   CPB2   CRYL1   CSNK1A1L   CUL4A   CYSLTR2   DACH1   DAOA   DAOA-AS1   DCLK1   DCT   DCUN1D2   DGKH   DHRS12   DIAPH3   DIS3   DLEU1   DLEU2   DLEU7   DNAJC15   DNAJC3   DOCK9   DZIP1   EBPL   EDNRB   EEF1AKMT1   EFNB2   ELF1   ENOX1   EPSTI1   ERCC5   ERICH6B   ESD   EXOSC8   F10   F7   FAM124A   FAM155A   FAM216B   FARP1   FBXL3   FGF14   FGF9   FLT1   FLT3   FNDC3A   FOXO1   FREM2   FRY   GAS6   GGACT   GJA3   GJB2   GJB6   GPALPP1   GPC5   GPC6   GPR12   GPR18   GPR180   GPR183   GRTP1   GSX1   GTF2F2   GTF3A   HMGB1   HNRNPA1L2   HS6ST3   HSPH1   HTR2A   IFT88   IL17D   ING1   INTS6   IPO5   IRS2   ITGBL1   ITM2B   KATNAL1   KBTBD6   KBTBD7   KCNRG   KCTD12   KCTD4   KL   KLF12   KLF5   KLHL1   KPNA3   LACC1   LAMP1   LATS2   LCP1   LHFPL6   LIG4   LINC00402   LINC00543   LINC00558   LINC00565   LINC00567   LMO7   LMO7DN   LNX2   LPAR6   LRCH1   LRRC63   MAB21L1   MBNL2   MCF2L   MED4   MEDAG   METTL21C   MICU2   MIPEP   MIR15A   MIR16-1   MIR17   MIR17HG   MIR18A   MIR19A   MIR19B1   MIR20A   MIR4500HG   MIR92A1   MLNR   MPHOSPH8   MRPL57   MRPS31   MTIF3   MTMR6   MTRF1   MTUS2   MYCBP2   MYO16   MZT1   N4BP2L1   N4BP2L2   NAA16   NALCN   NAXD   NBEA   NDFIP2   NEK3   NEK5   NHLRC3   NUDT15   NUFIP1   NUP58   OBI1   OLFM4   OXGR1   PABPC3   PAN3   PARP4   PCCA   PCDH17   PCDH20   PCDH8   PCDH9   PCID2   PCOTH   PDS5B   PDX1   PHF11   PIBF1   POGLUT2   POLR1D   POMP   POSTN   POU4F1   PROSER1   PROZ   PRR20A   PRR20B   PRR20C   PRR20D   PRR20E   PSPC1   RAB20   RAP2A   RASA3   RASL11A   RB1   RBM26   RCBTB1   RCBTB2   RFC3   RFXAP   RGCC   RNASEH2B   RNF113B   RNF17   RNF6   RPL21   RUBCNL   RXFP2   SACS   SAP18   SCEL   SERP2   SERPINE3   SERTM1   SETDB2   SGCG   SHISA2   SIAH3   SKA3   SLAIN1   SLC10A2   SLC15A1   SLC25A15   SLC25A30   SLC25A30-AS1   SLC46A3   SLC7A1   SLITRK1   SLITRK5   SLITRK6   SMAD9   SMIM2   SOHLH2   SOX1   SOX21   SPACA7   SPART   SPATA13   SPRY2   SPRYD7   STARD13   STK24   STOML3   SUCLA2   SUGT1   SUPT20H   TBC1D4   TDRD3   TEX26   TEX29   TEX30   TFDP1   TGDS   THSD1   TM9SF2   TMCO3   TMEM255B   TMTC4   TNFRSF19   TNFSF11   TNFSF13B   TPP2   TPT1   TPTE2   TRIM13   TRPC4   TSC22D1   TUBA3C   TUBGCP3   UBAC2   UBL3   UCHL3   UFM1   UGGT2   UPF3A   URAD   USP12   USPL1   UTP14C   VPS36   VWA8   WASF3   WBP4   WDFY2   XPO4   ZAR1L   ZC3H13   ZDHHC20   ZIC2   ZIC5   ZMYM2   ZMYM5  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371319,571,503 - 115,092,569CLINVAR
Cytogenetic Map1313q12.11-34CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541594
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.