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Variant : CV382539 (GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3) Homo sapiens

Symbol: CV382539
Name: GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3
Condition: See cases [RCV000447823]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AANAT   AATK   ABCA10   ABCA5   ABCA6   ABCA8   ABCA9   ABCC3   ABI3   ACBD4   ACE   ACOX1   ACSF2   ACTG1   ADAM11   AFMID   AKAP1   ALYREF   AMZ2   ANAPC11   ANKFN1   ANKRD40   APOH   APPBP2   ARHGAP27   ARHGDIA   ARL16   ARL17A   ARL17B   ARMC7   ARSG   ASPSCR1   ATP5MC1   ATP5PD   AXIN2   B3GNTL1   B4GALNT2   BAHCC1   BAIAP2   BCAS3   BIRC5   BPTF   BRIP1   BTBD17   C17orf58   C17orf64   C17orf67   C17orf77   C17orf80   C17orf99   C1QL1   C1QTNF1   CA10   CA4   CACNA1G   CACNG1   CACNG4   CACNG5   CALCOCO2   CANT1   CARD14   CASKIN2   CBX1   CBX2   CBX4   CBX8   CCDC103   CCDC137   CCDC40   CCDC43   CCDC47   CCDC57   CD300A   CD300C   CD300E   CD300LB   CD300LD   CD300LF   CD7   CD79B   CDC27   CDC42EP4   CDK3   CDK5RAP3   CDR2L   CENPX   CEP112   CEP131   CEP95   CHAD   CHMP6   CLTC   COG1   COIL   COL1A1   COPZ2   COX11   CPSF4L   CRHR1   CSH1   CSH2   CSHL1   CSNK1D   CUEDC1   CYB561   CYBC1   CYGB   CYTH1   DBF4B   DCAF7   DCAKD   DCXR   DDX42   DDX5   DGKE   DHX40   DLX3   DLX4   DNAH17   DNAI2   DUS1L   DYNLL2   EFCAB13   EFCAB3   EFTUD2   EIF4A3   EME1   ENDOV   ENGASE   ENPP7   EPN3   EPX   ERN1   EVPL   EXOC7   FAAP100   FADS6   FAM104A   FAM117A   FAM20A   FASN   FBF1   FDXR   FMNL1   FN3K   FN3KRP   FOXJ1   FOXK2   FSCN2   FTSJ3   FZD2   GAA   GALK1   GALR2   GCGR   GDPD1   GFAP   GGA3   GH1   GH2   GIP   GJC1   GNA13   GNGT2   GOSR2   GPATCH8   GPR142   GPRC5C   GPS1   GRB2   GRIN2C   H3-3B   HEATR6   HELZ   HEXD   HEXD-IT1   HEXIM1   HEXIM2   HGS   HID1   HIGD1B   HLF   HOXB1   HOXB13   HOXB2   HOXB3   HOXB4   HOXB5   HOXB6   HOXB7   HOXB8   HOXB9   HSF5   ICAM2   IGF2BP1   INTS2   ITGA3   ITGB3   ITGB4   JMJD6   JPT1   KANSL1   KAT7   KCNH6   KCNJ16   KCNJ2   KCTD2   KIF18B   KIF19   KIF2B   KPNA2   KPNB1   LGALS3BP   LIMD2   LINC02875   LINC02876   LLGL2   LPO   LRRC37A   LRRC37A2   LRRC37A3   LRRC45   LRRC46   LRRC59   LUC7L3   MAFG   MAP2K6   MAP3K14   MAP3K3   MAPT   MARCHF10   MBTD1   MCRIP1   MED13   MEIOC   METRNL   METTL23   METTL2A   MFSD11   MGAT5B   MIF4GD   MILR1   MIR10A   MIR152   MIR196A1   MIR21   MIR338   MKS1   MMD   MPO   MRC2   MRPL10   MRPL12   MRPL27   MRPL38   MRPL58   MRPS23   MRPS7   MSI2   MTMR4   MXRA7   MYADML2   MYCBPAP   MYL4   NACA2   NARF   NAT9   NDUFAF8   NFE2L1   NGFR   NME1   NME1-NME2   NME2   NMT1   NOG   NOL11   NOTUM   NPB   NPEPPS   NPLOC4   NPTX1   NSF   NT5C   NUP85   NXPH3   OGFOD3   OR4D1   OR4D2   OSBPL7   OTOP2   OTOP3   OXLD1   P4HB   PCTP   PCYT2   PDE6G   PDK2   PECAM1   PGS1   PHB   PHOSPHO1   PITPNC1   PLCD3   PLEKHM1   PNPO   POLG2   PPM1D   PPM1E   PPP1R27   PPP1R9B   PRAC1   PRAC2   PRCD   PRKAR1A   PRKCA   PRPSAP1   PRR11   PRR15L   PRR29   PSMC5   PSMD12   PTRH2   PYCR1   QRICH2   RAB37   RAB40B   RAC3   RAD51C   RBFOX3   RECQL5   RFNG   RGS9   RHBDF2   RNF157   RNF213   RNF43   RNFT1   RPL38   RPRML   RPS6KB1   RPTOR   RSAD1   SAMD14   SAP30BP   SCN4A   SCPEP1   SCRN2   SDK2   SEC14L1   SECTM1   SEPTIN4   SEPTIN9   SGCA   SGSH   SIRT7   SKA2   SKAP1   SLC16A3   SLC16A5   SLC16A6   SLC25A10   SLC25A19   SLC26A11   SLC35B1   SLC38A10   SLC39A11   SLC9A3R1   SMARCD2   SMG8   SMIM5   SMIM6   SMURF2   SNF8   SNX11   SOCS3   SOX9   SP2   SP6   SPAG9   SPATA20   SPATA32   SPHK1   SPOP   SPPL2C   SRP68   SRSF1   SRSF2   SSTR2   ST6GALNAC1   ST6GALNAC2   STH   STRADA   STXBP4   SUMO2   SUPT4H1   SYNGR2   TAC4   TACO1   TANC2   TBC1D16   TBCD   TBKBP1   TBX2   TBX21   TBX4   TEN1   TEPSIN   TEX14   TEX19   TEX2   TIMP2   TK1   TLK2   TMC6   TMC8   TMEM100   TMEM104   TMEM105   TMEM235   TMEM92   TMEM94   TNRC6C   TOB1   TOM1L1   TRIM25   TRIM37   TRIM47   TRIM65   TRQ-TTG1-1   TSEN54   TSPAN10   TSPOAP1   TTLL6   TTYH2   TUBD1   UBALD2   UBE2O   UBE2Z   UNC13D   UNK   USH1G   USP32   USP36   UTP18   UTS2R   VEZF1   VMP1   WBP2   WDR45B   WFIKKN2   WIPI1   WNT3   WNT9B   XYLT2   YPEL2   ZACN   ZNF652   ZNF750  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371742,580,684 - 81,085,615CLINVAR
Cytogenetic Map1717q21.31-25.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12852536
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.