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Variant : CV157217 (GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3) Homo sapiens

Symbol: CV157217
Name: GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3
Condition: See cases [RCV000136649]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCB5   AGMO   AGR2   AGR3   AHR   AIMP2   ANKMY2   ANKRD61   ARL4A   BZW2   C1GALT1   C7orf26   C7orf31   CBX3   CCDC126   CCZ1   CCZ1B   CDCA7L   COL28A1   CRPPA   CRPPA-AS1   CYCS   CYTH3   DAGLB   DGKB   DNAH11   EIF2AK1   ETV1   FAM126A   FAM220A   FAM221A   FERD3L   GLCCI1   GLCCI1-DT   GPNMB   GRID2IP   GSDME   HDAC9   HDAC9-AS1   HNRNPA2B1   HOTAIRM1   HOTTIP   HOXA-AS2   HOXA-AS3   HOXA1   HOXA10   HOXA10-AS   HOXA11   HOXA11-AS   HOXA13   HOXA2   HOXA3   HOXA4   HOXA5   HOXA6   HOXA7   HOXA9   ICA1   IGF2BP3   IL6   IL6-AS1   ITGB8   KDELR2   KIAA0087   KLHL7   KLHL7-DT   LINC01162   LINC02587   LINC02860   LRRC72   MACC1   MACC1-AS1   MALSU1   MEOX2   MIOS   MIR1183   MIR1302-6   MIR148A   MIR196B   MIR3146   MIR3683   MIR6874   MPP6   NDUFA4   NFE2L3   NPVF   NPY   NUP42   NXPH1   OCM   OSBPL3   PHF14   PMS2   PRPS1L1   RAC1   RAPGEF5   RNF216   RPA3   RSPH10B   RSPH10B2   SCIN   SKAP2   SNHG26   SNORA80D   SNORD65C   SNORD93   SNX10   SNX13   SOSTDC1   SP4   SP8   STEAP1B   STK31   THSD7A   TMEM106B   TMEM196   TOMM7   TRA2A   TSPAN13   TWIST1   TWISTNB   UMAD1   USP42   VWDE   ZDHHC4   ZNF12   ZNF316   ZNF853  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_5682209)_(27230311_?)dup
NC_000007.13:g.(?_5721840)_(27269930_?)dup
NC_000007.12:g.(?_5688366)_(27236455_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3875,682,209 - 27,230,311CLINVAR
GRCh3775,721,840 - 27,269,930CLINVAR
Build 3675,688,366 - 27,236,455CLINVAR
Cytogenetic Map77p22.1-15.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484210
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.