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Variant : CV162848 (GRCh38/hg38 14q32.2-32.31(chr14:99794337-100944567)x1) Homo sapiens

Symbol: CV162848
Name: GRCh38/hg38 14q32.2-32.31(chr14:99794337-100944567)x1
Condition: See cases [RCV000141596]
Clinical Significance: pathogenic
Last Evaluated: 10/01/2010
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   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   WARS1   WDR25   YY1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_99794337)_(100944567_?)del
NC_000014.8:g.(?_100260674)_(101410904_?)del
NC_000014.7:g.(?_99330427)_(100480657_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381499,794,337 - 100,944,567CLINVAR
GRCh3714100,260,674 - 101,410,904CLINVAR
Build 361499,330,427 - 100,480,657CLINVAR
Cytogenetic Map1414q32.2-32.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489121
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.