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Variant : CV160682 (GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1) Homo sapiens

Symbol: CV160682
Name: GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1
Condition: See cases [RCV000139723]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BEGAIN   CINP   DIO3   DIO3OS   DLK1   DYNC1H1   HSP90AA1   LINC00239   LINC00523   LINC00524   LINC02285   LINC02314   LINC02320   MEG3   MEG8   MEG9   MIR1185-1   MIR1185-2   MIR1193   MIR1197   MIR1247   MIR127   MIR134   MIR136   MIR154   MIR2392   MIR299   MIR300   MIR323A   MIR323B   MIR329-1   MIR329-2   MIR337   MIR345   MIR369   MIR370   MIR376A1   MIR376A2   MIR376B   MIR376C   MIR377   MIR379   MIR380   MIR381   MIR381HG   MIR382   MIR409   MIR410   MIR411   MIR412   MIR431   MIR432   MIR433   MIR485   MIR487A   MIR487B   MIR493   MIR494   MIR495   MIR496   MIR539   MIR541   MIR543   MIR544A   MIR654   MIR655   MIR656   MIR665   MIR668   MIR6764   MIR758   MIR770   MIR889   MOK   PPP2R5C   RTL1   SLC25A29   SLC25A47   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   TECPR2   TRI-AAT5-4   WARS1   WDR20   WDR25   YY1   ZNF839  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_100262836)_(102500697_?)del
Human AssemblyChrPosition (strand)Source
GRCh3814100,262,836 - 102,500,697CLINVAR
GRCh3714100,729,173 - 102,967,034CLINVAR
Build 361499,798,926 - 102,036,787CLINVAR
Cytogenetic Map1414q32.2-32.31CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9487253
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-26
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.