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Variant : CV382781 (GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3) Homo sapiens

Symbol: CV382781
Name: GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3
Condition: See cases [RCV000446497]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ADSS1   AHNAK2   AKT1   AMN   ANKRD9   ASPG   ATP5MPL   BAG5   BCL11B   BEGAIN   BRF1   BTBD6   C14orf177   C14orf180   CCDC85C   CCNK   CDC42BPB   CDCA4   CEP170B   CINP   CKB   CLBA1   COA8   CRIP1   CRIP2   CYP46A1   DEGS2   DIO3   DIO3OS   DLK1   DYNC1H1   EIF5   EML1   EVL   EXOC3L4   GPR132   HHIPL1   HSP90AA1   IGH   IGHA1   IGHA2   IGHD   IGHD3-3   IGHE   IGHG1   IGHG2   IGHG3   IGHG4   IGHM   IGHV3-23   INF2   JAG2   KIF26A   KLC1   MARK3   MEG3   MEG8   MIR127   MIR134   MIR136   MIR203A   MIR369   MIR370   MIR376A1   MIR376A2   MIR376B   MIR376C   MIR380   MIR409   MIR410   MIR431   MIR433   MIR487B   MIR495   MOK   MTA1   NUDT14   PACS2   PLD4   PPP1R13B   PPP2R5C   RCOR1   RD3L   RTL1   SETD3   SIVA1   SLC25A29   SLC25A47   SNORD112   SNORD113-1   SNORD114-1   TDRD9   TECPR2   TEDC1   TEX22   TMEM121   TMEM179   TNFAIP2   TRAF3   TRMT61A   WARS1   WDR20   WDR25   XRCC3   YY1   ZBTB42   ZFYVE21   ZNF839  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371498,051,841 - 107,285,437CLINVAR
Cytogenetic Map1414q32.2-32.33CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12851220
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.