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Variant : CV674993 (GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3) Homo sapiens

Symbol: CV674993
Name: GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3
Condition: not provided [RCV000848100]
Clinical Significance: pathogenic
Last Evaluated: 06/20/2018
Review Status: no assertion criteria provided
Related Genes: ACTB   ADAP1   AGMO   AGR2   AGR3   AHR   AIMP2   AMZ1   ANKMY2   AP5Z1   ARL4A   BRAT1   BZW2   C1GALT1   C7orf26   C7orf50   CARD11   CCZ1   CCZ1B   CHST12   COL28A1   COX19   CRPPA   CYP2W1   CYTH3   DAGLB   DGKB   DNAAF5   EIF2AK1   EIF3B   ELFN1   ETV1   FAM20C   FAM220A   FBXL18   FERD3L   FOXK1   FSCN1   GET4   GLCCI1   GNA12   GPER1   GPR146   GRID2IP   HDAC9   ICA1   INTS1   IQCE   KDELR2   LFNG   LRRC72   MAD1L1   MAFK   MEOX2   MICALL2   MIOS   MMD2   MRM2   NDUFA4   NUDT1   NXPH1   OCM   PAPOLB   PDGFA   PHF14   PMS2   PRKAR1B   PRPS1L1   PSMG3   RAC1   RADIL   RBAK   RBAK-RBAKDN   RNF216   RPA3   RSPH10B   RSPH10B2   SCIN   SDK1   SLC29A4   SNX13   SNX8   SOSTDC1   SUN1   THSD7A   TMEM106B   TMEM184A   TNRC18   TSPAN13   TTYH3   TWIST1   UNCX   USP42   VWDE   WIPI2   ZDHHC4   ZFAND2A   ZNF12   ZNF316   ZNF853  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37743,376 - 19,520,619CLINVAR
Cytogenetic Map77p22.3-21.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14976528
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-08-04
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.