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Variant : CV164747 (GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3) Homo sapiens

Symbol: CV164747
Name: GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3
Condition: See cases [RCV000143060]
Clinical Significance: pathogenic
Last Evaluated: 09/18/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCB5   ACTB   AGMO   AGR2   AGR3   AHR   AIMP2   AMZ1   ANKMY2   ANKRD61   AP5Z1   ARL4A   BRAT1   BZW2   C1GALT1   C7orf26   C7orf31   CARD11   CARD11-AS1   CBX3   CCDC126   CCZ1   CCZ1B   CDCA7L   CHST12   COL28A1   CRPPA   CRPPA-AS1   CYCS   CYTH3   DAGLB   DGKB   DNAH11   EIF2AK1   EIF3B   ELFN1   ELFN1-AS1   ETV1   FAM126A   FAM220A   FAM221A   FBXL18   FERD3L   FOXK1   FSCN1   GLCCI1   GLCCI1-DT   GNA12   GPNMB   GRID2IP   GRIFIN   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   IQCE   ITGB8   KDELR2   KIAA0087   KLHL7   KLHL7-DT   LFNG   LINC01162   LINC02587   LINC02860   LRRC72   MACC1   MACC1-AS1   MAD1L1   MALSU1   MEOX2   MIOS   MIR1183   MIR1302-6   MIR148A   MIR196B   MIR3146   MIR3683   MIR4648   MIR4655   MIR4656   MIR589   MIR6836   MIR6874   MMD2   MPP6   MRM2   NDUFA4   NFE2L3   NPVF   NPY   NUDT1   NUP42   NXPH1   OCM   OSBPL3   PAPOLB   PHF14   PMS2   PRPS1L1   RAC1   RADIL   RAPGEF5   RBAK   RBAK-RBAKDN   RBAKDN   RNF216   RNF216-IT1   RPA3   RSPH10B   RSPH10B2   SCIN   SDK1   SKAP2   SLC29A4   SNHG26   SNORA114   SNORA80D   SNORD165   SNORD65C   SNORD93   SNX10   SNX13   SNX8   SOSTDC1   SP4   SP8   STEAP1B   STK31   THSD7A   TMEM106B   TMEM196   TNRC18   TOMM7   TRA2A   TSPAN13   TTYH3   TWIST1   TWISTNB   UMAD1   USP42   VWDE   WIPI2   ZDHHC4   ZNF12   ZNF316   ZNF853  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_1698124)_(27207295_?)dup
Human AssemblyChrPosition (strand)Source
GRCh3871,698,124 - 27,207,295CLINVAR
GRCh3771,737,760 - 27,246,914CLINVAR
Build 3671,704,286 - 27,213,439CLINVAR
Cytogenetic Map77p22.3-15.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9490658
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


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