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Variant : CV72065 (GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3) Homo sapiens

Symbol: CV72065
Name: GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3
Condition: Seizure [RCV000051179]|See cases [RCV000051179]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCC4   BIVM   BIVM-ERCC5   CCDC168   CLDN10   CLDN10-AS1   CLYBL   CLYBL-AS1   CLYBL-AS2   DAOA   DAOA-AS1   DCT   DNAJC3   DNAJC3-DT   DOCK9   DOCK9-AS1   DOCK9-DT   DZIP1   ERCC5   FARP1   FGF14   FGF14-AS1   FGF14-AS2   FGF14-IT1   GGACT   GPC5   GPC5-AS1   GPC5-AS2   GPC6   GPC6-AS1   GPC6-AS2   GPR18   GPR180   GPR183   HS6ST3   IPO5   ITGBL1   LINC00333   LINC00343   LINC00351   LINC00353   LINC00359   LINC00363   LINC00373   LINC00375   LINC00379   LINC00380   LINC00397   LINC00410   LINC00411   LINC00430   LINC00433   LINC00440   LINC00449   LINC00456   LINC00554   LINC00557   LINC00559   LINC00560   LINC01039   LINC01040   LINC01047   LINC01049   LINC01232   LINC01309   LINC02336   MBNL2   METTL21C   MIR17   MIR17HG   MIR18A   MIR19A   MIR19B1   MIR20A   MIR2681   MIR3170   MIR4306   MIR4500   MIR4500HG   MIR4501   MIR4705   MIR548AS   MIR622   MIR623   MIR92A1   NALCN   NALCN-AS1   OXGR1   PCCA   PCCA-AS1   PCCA-DT   POGLUT2   RAP2A   RNF113B   SLC10A2   SLC15A1   SLITRK1   SLITRK5   SLITRK6   SNORA107   SNORD13G   SOX21   SOX21-AS1   STK24   STK24-AS1   TEX30   TGDS   TM9SF2   TMTC4   TPP2   TRF-GAA1-5   UBAC2   UBAC2-AS1   UGGT2   ZIC2   ZIC5  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_82032938)_(106082542_?)dup
NC_000013.10:g.(?_82607073)_(106734891_?)dup
NC_000013.9:g.(?_81505074)_(105532892_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381382,032,938 - 106,082,542CLINVAR
GRCh371382,607,073 - 106,734,891CLINVAR
Build 361381,505,074 - 105,532,892CLINVAR
Cytogenetic Map1313q31.1-33.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618219
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.