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Variant : CV164461 (GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1) Homo sapiens

Symbol: CV164461
Name: GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1
Condition: See cases [RCV000142774]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BEGAIN   DEGS2   DLK1   EML1   EVL   LINC00523   MEG3   MEG8   MIR127   MIR136   MIR151B   MIR2392   MIR337   MIR342   MIR345   MIR370   MIR379   MIR431   MIR432   MIR433   MIR493   MIR665   MIR6764   MIR770   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   WARS1   WDR25   YY1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_99930669)_(101022599_?)del
NC_000014.8:g.(?_100397006)_(101488936_?)del
NC_000014.7:g.(?_99466759)_(100558689_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381499,930,669 - 101,022,599CLINVAR
GRCh3714100,397,006 - 101,488,936CLINVAR
Build 361499,466,759 - 100,558,689CLINVAR
Cytogenetic Map1414q32.2-32.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490372
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.