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Variant : CV676801 (GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3) Homo sapiens

Symbol: CV676801
Name: GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3
Condition: not provided [RCV000849900]
Clinical Significance: pathogenic
Last Evaluated: 05/26/2017
Review Status: no assertion criteria provided
Related Genes: AANAT   AATK   ABCA10   ABCA5   ABCA6   ABCA8   ABCA9   ACOX1   ACTG1   AFMID   ALYREF   AMZ2   ANAPC11   APOH   ARHGDIA   ARL16   ARMC7   ARSG   ASPSCR1   ATP5PD   AXIN2   B3GNTL1   BAHCC1   BAIAP2   BIRC5   BPTF   BTBD17   C17orf58   C17orf77   C17orf80   C17orf99   C1QTNF1   CACNG1   CACNG4   CACNG5   CANT1   CARD14   CASKIN2   CBX2   CBX4   CBX8   CCDC137   CCDC40   CCDC57   CD300A   CD300C   CD300E   CD300LB   CD300LD   CD300LF   CD7   CDC42EP4   CDK3   CDR2L   CENPX   CEP112   CEP131   CHMP6   COG1   CPSF4L   CSNK1D   CYBC1   CYGB   CYTH1   DCXR   DNAH17   DNAI2   DUS1L   EIF4A3   ENDOV   ENGASE   ENPP7   EVPL   EXOC7   FAAP100   FADS6   FAM104A   FAM20A   FASN   FBF1   FDXR   FN3K   FN3KRP   FOXJ1   FOXK2   FSCN2   GAA   GALK1   GALR2   GCGR   GGA3   GNA13   GPR142   GPRC5C   GPS1   GRB2   GRIN2C   H3-3B   HELZ   HEXD   HEXD-IT1   HGS   HID1   ITGB4   JMJD6   JPT1   KCNJ16   KCNJ2   KCTD2   KIF19   KPNA2   LGALS3BP   LLGL2   LRRC37A3   LRRC45   MAFG   MAP2K6   MCRIP1   METRNL   METTL23   MFSD11   MGAT5B   MIF4GD   MIR338   MRPL12   MRPL38   MRPL58   MRPS7   MXRA7   MYADML2   NARF   NAT9   NDUFAF8   NOL11   NOTUM   NPB   NPLOC4   NPTX1   NT5C   NUP85   OGFOD3   OTOP2   OTOP3   OXLD1   P4HB   PCYT2   PDE6G   PGS1   PITPNC1   PPP1R27   PRCD   PRKAR1A   PRKCA   PRPSAP1   PSMD12   PYCR1   QRICH2   RAB37   RAB40B   RAC3   RBFOX3   RECQL5   RFNG   RGS9   RHBDF2   RNF157   RNF213   RPL38   RPTOR   SAP30BP   SDK2   SEC14L1   SECTM1   SEPTIN9   SGSH   SIRT7   SLC16A3   SLC16A5   SLC16A6   SLC25A10   SLC25A19   SLC26A11   SLC38A10   SLC39A11   SLC9A3R1   SMIM5   SMIM6   SOCS3   SOX9   SPHK1   SRP68   SRSF2   SSTR2   ST6GALNAC1   ST6GALNAC2   SUMO2   SYNGR2   TBC1D16   TBCD   TEN1   TEPSIN   TEX19   TIMP2   TK1   TMC6   TMC8   TMEM104   TMEM105   TMEM235   TMEM94   TNRC6C   TRIM47   TRIM65   TSEN54   TSPAN10   TTYH2   UBALD2   UBE2O   UNC13D   UNK   USH1G   USP36   UTS2R   WBP2   WDR45B   WIPI1   ZACN   ZNF750  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371762,778,720 - 81,041,938CLINVAR
Cytogenetic Map1717q24.1-25.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14976667
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-03-24
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.