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Variant : CV436486 (GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3) Homo sapiens

Symbol: CV436486
Name: GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3
Condition: See cases [RCV000510275]
Clinical Significance: pathogenic
Last Evaluated: 03/16/2015
Review Status: no assertion criteria provided
Related Genes: ABCB5   ACTB   ADAP1   AGMO   AGR2   AGR3   AHR   AIMP2   AMZ1   ANKMY2   AP5Z1   ARL4A   BRAT1   BZW2   C1GALT1   C7orf26   C7orf31   C7orf50   CARD11   CBX3   CCDC126   CCZ1   CCZ1B   CDCA7L   CHN2   CHST12   COL28A1   COX19   CPVL   CREB5   CRPPA   CYCS   CYP2W1   CYTH3   DAGLB   DGKB   DNAAF5   DNAH11   EIF2AK1   EIF3B   ELFN1   ETV1   EVX1   FAM126A   FAM220A   FAM221A   FBXL18   FERD3L   FOXK1   FSCN1   GET4   GLCCI1   GNA12   GPER1   GPNMB   GPR146   GRID2IP   GSDME   HDAC9   HIBADH   HNRNPA2B1   HOTAIRM1   HOTTIP   HOXA1   HOXA10   HOXA11   HOXA11-AS   HOXA13   HOXA2   HOXA3   HOXA4   HOXA5   HOXA6   HOXA7   HOXA9   ICA1   IGF2BP3   IL6   IL6-AS1   INTS1   IQCE   ITGB8   JAZF1   KDELR2   KLHL7   KLHL7-DT   LFNG   LINC02860   LRRC72   MACC1   MAD1L1   MAFK   MALSU1   MEOX2   MICALL2   MIOS   MIR148A   MIR196B   MMD2   MPP6   MRM2   NDUFA4   NFE2L3   NPVF   NPY   NUDT1   NUP42   NXPH1   OCM   OSBPL3   PAPOLB   PHF14   PMS2   PRKAR1B   PRPS1L1   PSMG3   RAC1   RADIL   RAPGEF5   RBAK   RBAK-RBAKDN   RNF216   RPA3   RSPH10B   RSPH10B2   SCIN   SDK1   SKAP2   SLC29A4   SNX10   SNX13   SNX8   SOSTDC1   SP4   SP8   STEAP1B   STK31   SUN1   TAX1BP1   THSD7A   TMEM106B   TMEM184A   TMEM196   TNRC18   TOMM7   TRA2A   TRIL   TSPAN13   TTYH3   TWIST1   TWISTNB   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
GRCh377704,573 - 29,257,946CLINVAR
Cytogenetic Map77p22.3-14.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13443255
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-01-14
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.