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Variant : CV71913 (GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1) Homo sapiens

Symbol: CV71913
Name: GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1
Condition: Seizure [RCV000051003]|See cases [RCV000051003]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BAZ2B   CCDC148   CD302   COBLL1   CSRNP3   DAPL1   DPP4   DPP4-DT   FAP   FIGN   GALNT3   GCA   GCG   GRB14   IFIH1   ITGB6   KCNH7   KCNH7-AS1   LINC01806   LINC02478   LY75   LY75-CD302   MARCHF7   MIR4785   MIR6888   PKP4   PKP4-AS1   PLA2R1   PSMD14   RBMS1   SCN1A   SCN1A-AS1   SCN2A   SCN3A   SCN7A   SCN9A   SLC38A11   SLC4A10   SNORA70F   TANC1   TANK   TBR1   TTC21B   TTC21B-AS1   WDSUB1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_158382388)_(166605758_?)del
NC_000002.11:g.(?_159238900)_(167462268_?)del
NC_000002.10:g.(?_158947146)_(167170514_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382158,382,388 - 166,605,758CLINVAR
GRCh372159,238,900 - 167,462,268CLINVAR
Build 362158,947,146 - 167,170,514CLINVAR
Cytogenetic Map22q24.1-24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618054
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.