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Variant : CV155835 (GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3) Homo sapiens

Symbol: CV155835
Name: GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3
Condition: See cases [RCV000135410]
Clinical Significance: pathogenic
Last Evaluated: 07/30/2009
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADSS1   AHNAK2   AKT1   AMN   ANKRD9   ASPG   ATP5MPL   BAG5   BEGAIN   BRF1   BTBD6   C14orf180   CDC42BPB   CDCA4   CEP170B   CINP   CKB   CLBA1   COA8   CRIP1   CRIP2   DIO3   DIO3OS   DLK1   DYNC1H1   EIF5   EXOC3L4   FAM30A   GPR132   HSP90AA1   IGH   IGHA1   IGHA2   IGHD   IGHD1-1   IGHD1-14   IGHD1-20   IGHD1-26   IGHD1-7   IGHD2-15   IGHD2-2   IGHD2-21   IGHD2-8   IGHD3-10   IGHD3-16   IGHD3-22   IGHD3-3   IGHD3-9   IGHD4-11   IGHD4-17   IGHD4-23   IGHD4-4   IGHD5-12   IGHD5-18   IGHD5-24   IGHD5-5   IGHD6-13   IGHD6-19   IGHD6-25   IGHD6-6   IGHD7-27   IGHE   IGHG1   IGHG2   IGHG3   IGHG4   IGHJ1   IGHJ2   IGHJ3   IGHJ4   IGHJ5   IGHJ6   IGHM   IGHV1-2   IGHV6-1   INF2   JAG2   KIF26A   KLC1   LBHD2   LINC00239   LINC00523   LINC00524   LINC00605   LINC00637   LINC00638   LINC00677   LINC02280   LINC02285   LINC02298   LINC02314   LINC02320   LINC02323   LINC02691   MARK3   MEG3   MEG8   MEG9   MIR1185-1   MIR1185-2   MIR1193   MIR1197   MIR12121   MIR1247   MIR127   MIR134   MIR136   MIR154   MIR203A   MIR203B   MIR2392   MIR299   MIR300   MIR323A   MIR323B   MIR329-1   MIR329-2   MIR337   MIR369   MIR370   MIR376A1   MIR376A2   MIR376B   MIR376C   MIR377   MIR379   MIR380   MIR381   MIR381HG   MIR382   MIR409   MIR410   MIR411   MIR412   MIR4309   MIR431   MIR432   MIR433   MIR4507   MIR4537   MIR4538   MIR4539   MIR4710   MIR485   MIR487A   MIR487B   MIR493   MIR494   MIR495   MIR496   MIR539   MIR541   MIR543   MIR544A   MIR654   MIR655   MIR656   MIR665   MIR668   MIR6765   MIR758   MIR770   MIR8071-1   MIR8071-2   MIR889   MOK   MTA1   NUDT14   PACS2   PLD4   PPP1R13B   PPP2R5C   RCOR1   RD3L   RTL1   SIVA1   SLC25A47   SNORA28   SNORD112   SNORD113-1   SNORD113-2   SNORD113-3   SNORD113-4   SNORD113-5   SNORD113-6   SNORD113-7   SNORD113-8   SNORD113-9   SNORD114-1   SNORD114-10   SNORD114-11   SNORD114-12   SNORD114-13   SNORD114-14   SNORD114-15   SNORD114-16   SNORD114-17   SNORD114-18   SNORD114-19   SNORD114-2   SNORD114-20   SNORD114-21   SNORD114-22   SNORD114-23   SNORD114-24   SNORD114-25   SNORD114-26   SNORD114-27   SNORD114-28   SNORD114-29   SNORD114-3   SNORD114-30   SNORD114-31   SNORD114-4   SNORD114-5   SNORD114-6   SNORD114-7   SNORD114-8   SNORD114-9   TDRD9   TECPR2   TEDC1   TEX22   TMEM121   TMEM179   TNFAIP2   TRAF3   TRI-AAT5-4   TRMT61A   WARS1   WDR20   WDR25   XRCC3   ZBTB42   ZFYVE21   ZNF839  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_100309382)_(105987610_?)dup
NC_000014.8:g.(?_100775719)_(106453697_?)dup
NC_000014.7:g.(?_99845472)_(105524742_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3814100,309,382 - 105,987,610CLINVAR
GRCh3714100,775,719 - 106,453,697CLINVAR
Build 361499,845,472 - 105,524,742CLINVAR
Cytogenetic Map1414q32.2-32.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482983
Created: 2014-09-09
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.