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Variant : CV555267 (GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3) Homo sapiens

Symbol: CV555267
Name: GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3
Condition: not provided [RCV000683572]
Clinical Significance: pathogenic
Last Evaluated: 10/27/2017
Review Status: no assertion criteria provided
Related Genes: AKAP11   ALG11   ALG5   ALOX5AP   AMER2   ARL11   ATP12A   ATP7B   ATP8A2   ATXN8OS   B3GLCT   BORA   BRCA2   C1QTNF9   C1QTNF9B   CAB39L   CBY2   CCDC122   CCDC169   CCDC169-SOHLH2   CCDC70   CCNA1   CDADC1   CDK8   CDX2   CENPJ   CKAP2   CNMD   COG3   COG6   CPB2   CRYL1   CSNK1A1L   CYSLTR2   DACH1   DCLK1   DGKH   DHRS12   DIAPH3   DIS3   DLEU1   DLEU2   DLEU7   DNAJC15   EBPL   EEF1AKMT1   ELF1   ENOX1   EPSTI1   ERICH6B   ESD   EXOSC8   FAM124A   FAM216B   FGF9   FLT1   FLT3   FNDC3A   FOXO1   FREM2   FRY   GJA3   GJB2   GJB6   GPALPP1   GPR12   GSX1   GTF2F2   GTF3A   HMGB1   HNRNPA1L2   HSPH1   HTR2A   IFT88   IL17D   INTS6   ITM2B   KATNAL1   KBTBD6   KBTBD7   KCNRG   KCTD4   KL   KLF5   KLHL1   KPNA3   LACC1   LATS2   LCP1   LHFPL6   LINC00543   LINC00558   LNX2   LPAR6   LRCH1   LRRC63   MAB21L1   MED4   MEDAG   MICU2   MIPEP   MIR15A   MIR16-1   MLNR   MPHOSPH8   MRPL57   MRPS31   MTIF3   MTMR6   MTRF1   MTUS2   MZT1   N4BP2L1   N4BP2L2   NAA16   NBEA   NEK3   NEK5   NHLRC3   NUDT15   NUFIP1   NUP58   OLFM4   PABPC3   PAN3   PARP4   PCDH17   PCDH20   PCDH8   PCDH9   PCOTH   PDS5B   PDX1   PHF11   PIBF1   POLR1D   POMP   POSTN   PROSER1   PRR20A   PRR20B   PRR20C   PRR20D   PRR20E   PSPC1   RASL11A   RB1   RCBTB1   RCBTB2   RFC3   RFXAP   RGCC   RNASEH2B   RNF17   RNF6   RPL21   RUBCNL   RXFP2   SACS   SAP18   SERP2   SERPINE3   SERTM1   SETDB2   SGCG   SHISA2   SIAH3   SKA3   SLC25A15   SLC25A30   SLC25A30-AS1   SLC46A3   SLC7A1   SMAD9   SMIM2   SOHLH2   SPART   SPATA13   SPRYD7   STARD13   STOML3   SUCLA2   SUGT1   SUPT20H   TDRD3   TEX26   THSD1   TNFRSF19   TNFSF11   TPT1   TPTE2   TRIM13   TRPC4   TSC22D1   TUBA3C   UBL3   UFM1   URAD   USP12   USPL1   UTP14C   VPS36   VWA8   WASF3   WBP4   WDFY2   XPO4   ZAR1L   ZC3H13   ZDHHC20   ZMYM2   ZMYM5  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371319,436,286 - 74,045,459CLINVAR
Cytogenetic Map1313q11-22.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13797069
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.