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Variant : CV436733 (GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3) Homo sapiens

Symbol: CV436733
Name: GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3
Condition: See cases [RCV000510950]
Clinical Significance: pathogenic
Last Evaluated: 08/27/2015
Review Status: no assertion criteria provided
Related Genes: ACTB   ADAP1   AIMP2   AMZ1   AP5Z1   BRAT1   C1GALT1   C7orf26   C7orf50   CARD11   CCZ1   CCZ1B   CHST12   COL28A1   COX19   CYP2W1   CYTH3   DAGLB   DNAAF5   EIF2AK1   EIF3B   ELFN1   FAM20C   FAM220A   FBXL18   FOXK1   FSCN1   GET4   GLCCI1   GNA12   GPER1   GPR146   GRID2IP   ICA1   INTS1   IQCE   KDELR2   LFNG   MAD1L1   MAFK   MICALL2   MIOS   MMD2   MRM2   NDUFA4   NUDT1   NXPH1   OCM   PAPOLB   PDGFA   PHF14   PMS2   PRKAR1B   PSMG3   RAC1   RADIL   RBAK   RBAK-RBAKDN   RNF216   RPA3   RSPH10B   RSPH10B2   SDK1   SLC29A4   SNX8   SUN1   THSD7A   TMEM184A   TNRC18   TTYH3   UNCX   USP42   WIPI2   ZDHHC4   ZFAND2A   ZNF12   ZNF316   ZNF853  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37743,360 - 12,098,696CLINVAR
Cytogenetic Map77p22.3-21.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13443927
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-03-17
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.