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Variant : CV555173 (GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3) Homo sapiens

Symbol: CV555173
Name: GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3
Condition: not provided [RCV000683478]
Clinical Significance: pathogenic
Last Evaluated: 04/26/2018
Review Status: no assertion criteria provided
Related Genes: A2M   A2ML1   ABCC9   ACRBP   ACSM4   ADIPOR2   AEBP2   AICDA   AKAP3   ALG10   AMN1   ANO2   APOBEC1   APOLD1   ARHGDIB   ARNTL2   ART4   ATF7IP   ATN1   B4GALNT3   BCAT1   BCL2L14   BHLHE41   BICD1   BORCS5   C12orf4   C12orf57   C12orf60   C12orf71   C12orf77   C1R   C1RL   C1S   C2CD5   C3AR1   CACNA1C   CACNA2D4   CAPRIN2   CAPZA3   CASC1   CCDC77   CCDC91   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   CMAS   COPS7A   CRACR2A   CREBL2   DCP1B   DDX11   DDX47   DENND5B   DERA   DNM1L   DPPA3   DUSP16   DYRK4   EMG1   EMP1   ENO2   EPS8   ERC1   ERGIC2   ERP27   ETFBKMT   ETFRF1   ETNK1   ETV6   FAM234B   FAM90A1   FAR2   FBXL14   FGD4   FGF23   FGF6   FGFR1OP2   FKBP4   FOXJ2   FOXM1   GABARAPL1   GALNT8   GAPDH   GDF3   GNB3   GOLT1B   GPR162   GPR19   GPRC5A   GPRC5D   GRIN2B   GSG1   GUCY2C   GYS2   H2AJ   H3-5   H4-16   HEBP1   IAPP   IFFO1   ING4   INTS13   IPO8   IQSEC3   ITFG2   ITPR2   KCNA1   KCNA5   KCNA6   KCNJ8   KDM5A   KLHL42   KLRB1   KLRC1   KLRC2   KLRC3   KLRC4   KLRD1   KLRF1   KLRF2   KLRG1   KLRK1   KRAS   LAG3   LDHB   LMNTD1   LMO3   LPAR5   LPCAT3   LRMP   LRP6   LRRC23   LRTM2   LTBR   M6PR   MAGOHB   MANSC1   MANSC4   MED21   MFAP5   MGP   MGST1   MIR141   MIR200C   MLF2   MRPL51   MRPS35   NANOG   NANOGNB   NCAPD2   NDUFA9   NECAP1   NINJ2   NOP2   NRIP2   NTF3   OLR1   OVCH1   P3H3   PARP11   PDE3A   PDE6H   PEX5   PHB2   PHC1   PIANP   PIK3C2G   PKP2   PLBD1   PLCZ1   PLEKHA5   PLEKHG6   PPFIBP1   PRB1   PRB2   PRB3   PRB4   PRH1   PRH2   PRMT8   PRR4   PTHLH   PTMS   PTPN6   PTPRO   PYROXD1   PZP   RAD51AP1   RAD52   RASSF8   RBP5   RECQL   REP15   RERG   RERGL   RESF1   RHNO1   RIMKLB   SCNN1A   SINHCAF   SLC15A5   SLC2A14   SLC2A3   SLC6A12   SLC6A13   SLCO1A2   SLCO1B1   SLCO1B3   SLCO1B7   SLCO1C1   SMCO2   SMCO3   SOX5   SPSB2   SPX   SSPN   ST8SIA1   STK38L   STRAP   STYK1   SYT10   TAPBPL   TAS2R10   TAS2R13   TAS2R14   TAS2R19   TAS2R20   TAS2R30   TAS2R31   TAS2R42   TAS2R43   TAS2R46   TAS2R50   TAS2R7   TAS2R8   TAS2R9   TEAD4   TIGAR   TM7SF3   TMEM52B   TMTC1   TNFRSF1A   TPI1   TSPAN11   TSPAN9   TULP3   USP5   VAMP1   VWF   WBP11   WNK1   WNT5B   YARS2   YBX3   ZNF384   ZNF705A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.11:g.(?_173786)_(34835837_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3712173,786 - 34,835,837CLINVAR
Cytogenetic Map1212p13.33-11.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13796812
Created: 2018-10-09
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.