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Variant : CV158509 (GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3) Homo sapiens

Symbol: CV158509
Name: GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3
Condition: See cases [RCV000137824]
Clinical Significance: pathogenic
Last Evaluated: 10/07/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCB5   AC002480.1   AC004130.2   AC004949.1   AC005083.1   AC005532.1   AC005550.2   AC013470.2   AC092171.3   AC093627.2   AC093627.4   AC099342.1   AC147651.1   AC188617.1   AC226118.1   ACTB   ADAP1   AGMO   AGR2   AGR3   AHR   AIMP2   AMZ1   ANKMY2   ANKRD61   AP5Z1   ARL4A   BRAT1   BZW2   C1GALT1   C7orf26   C7orf31   C7orf50   CARD11   CARD11-AS1   CCDC126   CCZ1   CCZ1B   CDCA7L   CHST12   COL28A1   COX19   CRPPA   CRPPA-AS1   CYCS   CYP2W1   CYTH3   DAGLB   DGKB   DNAAF5   DNAH11   EIF2AK1   EIF3B   ELFN1   ELFN1-AS1   ETV1   FAM126A   FAM20C   FAM220A   FAM221A   FBXL18   FERD3L   FOXK1   FOXL3   FOXL3-OT1   FSCN1   GET4   GLCCI1   GLCCI1-DT   GNA12   GPER1   GPNMB   GPR146   GRID2IP   GRIFIN   GSDME   HDAC9   HDAC9-AS1   ICA1   IGF2BP3   IL6   IL6-AS1   INTS1   IQCE   ITGB8   KDELR2   KLHL7   KLHL7-DT   LFNG   LINC01162   LINC02587   LINC02888   LINC02889   LNCRI   LRRC72   MACC1   MACC1-AS1   MAD1L1   MAFK   MALSU1   MEOX2   MICALL2   MIOS   MIR1183   MIR1302-6   MIR3146   MIR339   MIR3683   MIR4648   MIR4655   MIR4656   MIR589   MIR6836   MIR6874   MMD2   MPP6   MRM2   NDUFA4   NPY   NUDT1   NUP42   NXPH1   OCM   OSBPL3   PAPOLB   PDGFA   PHF14   PMS2   POLR1F   PRKAR1B   PRKAR1B-AS1   PRKAR1B-AS2   PRPS1L1   PSMG3   PSMG3-AS1   RAC1   RADIL   RAPGEF5   RBAK   RBAK-RBAKDN   RBAKDN   RNF216   RNF216-IT1   RPA3   RSPH10B   RSPH10B2   SCIN   SDK1   SDK1-AS1   SLC29A4   SNHG26   SNORA114   SNORA80D   SNORD165   SNORD65C   SNORD93   SNX13   SNX8   SOSTDC1   SP4   SP8   STEAP1B   STK31   SUN1   THSD7A   TMEM106B   TMEM184A   TMEM196   TNRC18   TOMM7   TRA2A   TSPAN13   TTYH3   TWIST1   UMAD1   UNCX   USP42   VWDE   WIPI2   ZDHHC4   ZFAND2A   ZFAND2A-DT   ZNF12   ZNF316   ZNF853  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_45130)_(25221165_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38745,130 - 25,221,165CLINVAR
GRCh37745,130 - 25,260,784CLINVAR
Build 367140,213 - 25,227,309CLINVAR
Cytogenetic Map77p22.3-15.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9485376
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-21
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.