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Variant : CV614113 (GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)) Homo sapiens

Symbol: CV614113
Name: GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)
Condition: not provided [RCV000767817]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: A2M   A2ML1   ACRBP   ACSM4   ADIPOR2   AICDA   AKAP3   ANO2   APOBEC1   APOLD1   ART4   ATF7IP   ATN1   B4GALNT3   BCL2L14   BORCS5   C12orf4   C12orf57   C12orf60   C1R   C1RL   C1S   C3AR1   CACNA1C   CACNA2D4   CCDC77   CCND2   CD163   CD163L1   CD27   CD4   CD69   CD9   CDCA3   CDKN1B   CHD4   CLEC12A   CLEC12B   CLEC1A   CLEC1B   CLEC2A   CLEC2B   CLEC2D   CLEC4A   CLEC4C   CLEC4D   CLEC4E   CLEC6A   CLEC7A   CLEC9A   CLECL1   CLSTN3   COPS7A   CRACR2A   CREBL2   DCP1B   DDX47   DPPA3   DUSP16   DYRK4   EMG1   EMP1   ENO2   ERC1   ETV6   FAM234B   FAM90A1   FBXL14   FGF23   FGF6   FKBP4   FOXJ2   FOXM1   GABARAPL1   GALNT8   GAPDH   GDF3   GNB3   GPR162   GPR19   GPRC5A   GPRC5D   GRIN2B   GSG1   GUCY2C   H2AJ   H4-16   HEBP1   IFFO1   ING4   IQSEC3   ITFG2   KCNA1   KCNA5   KCNA6   KDM5A   KLRB1   KLRC1   KLRC2   KLRC3   KLRC4   KLRD1   KLRF1   KLRF2   KLRG1   KLRK1   LAG3   LPAR5   LPCAT3   LRP6   LRRC23   LRTM2   LTBR   M6PR   MAGOHB   MANSC1   MFAP5   MIR141   MIR200C   MLF2   MRPL51   NANOG   NANOGNB   NCAPD2   NDUFA9   NECAP1   NINJ2   NOP2   NRIP2   NTF3   OLR1   P3H3   PARP11   PEX5   PHB2   PHC1   PIANP   PLBD1   PLEKHG6   PRB1   PRB2   PRB3   PRB4   PRH1   PRH2   PRMT8   PRR4   PTMS   PTPN6   PZP   RAD51AP1   RAD52   RBP5   RHNO1   RIMKLB   SCNN1A   SLC2A14   SLC2A3   SLC6A12   SLC6A13   SMCO3   SPSB2   STYK1   TAPBPL   TAS2R10   TAS2R13   TAS2R14   TAS2R19   TAS2R20   TAS2R30   TAS2R31   TAS2R42   TAS2R43   TAS2R46   TAS2R50   TAS2R7   TAS2R8   TAS2R9   TEAD4   TIGAR   TMEM52B   TNFRSF1A   TPI1   TSPAN9   TULP3   USP5   VAMP1   VWF   WBP11   WNK1   WNT5B   YBX3   ZNF384   ZNF705A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3712189,216 - 15,001,420CLINVAR
Cytogenetic Map1212p13.33-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14399766
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2019-08-06
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.