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Variant : CV73246 (GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3) Homo sapiens

Symbol: CV73246
Name: GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3
Condition: Seizure [RCV000052428]|See cases [RCV000052428]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACSF3   ANKRD11   APRT   BANP   CA5A   CBFA2T3   CDH15   CDK10   CDT1   CENPBD1   CHMP1A   CPNE7   CTU2   CYBA   DBNDD1   DEF8   DPEP1   FANCA   GALNS   GAS8   GAS8-AS1   IL17C   LINC00304   LINC02138   LINC02166   LINC02182   LOC100289580   LOC339059   MC1R   MIR11401   MIR4722   MIR5189   MVD   PABPN1L   PIEZO1   PRDM7   RNF166   RPL13   SLC22A31   SLC7A5   SNAI3   SNAI3-AS1   SNORA119   SNORD68   SPATA2L   SPATA33   SPG7   SPIRE2   TCF25   TRAPPC2L   TUBB3   VPS9D1   VPS9D1-AS1   ZC3H18   ZC3H18-AS1   ZFPM1   ZNF276   ZNF469   ZNF778  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_87853401)_(90081985_?)dup
NC_000016.9:g.(?_87887007)_(90148393_?)dup
NC_000016.8:g.(?_86444508)_(88675894_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381687,853,401 - 90,081,985CLINVAR
GRCh371687,887,007 - 90,148,393CLINVAR
Build 361686,444,508 - 88,675,894CLINVAR
Cytogenetic Map1616q24.2-24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619414
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
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.