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Variant : CV171731 (NC_000014.9:g.100806482_101281031del474550) Homo sapiens

Symbol: CV171731
Name: NC_000014.9:g.100806482_101281031del474550
Condition: Paternal uniparental disomy of chromosome 14 [RCV000149429]
Clinical Significance: pathogenic
Last Evaluated: 05/01/2007
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: LINC02285   MEG3   MEG8   MEG9   MIR1185-1   MIR1185-2   MIR1193   MIR1197   MIR127   MIR134   MIR136   MIR154   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   MIR431   MIR432   MIR433   MIR485   MIR487A   MIR487B   MIR493   MIR494   MIR495   MIR496   MIR539   MIR541   MIR543   MIR544A   MIR654   MIR655   MIR656   MIR665   MIR668   MIR758   MIR770   MIR889   RTL1   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  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.100806482_101281031del474550
Human AssemblyChrPosition (strand)Source
GRCh3814100,806,482 - 101,281,031CLINVAR
GRCh3714101,272,819 - 101,747,368CLINVAR
Cytogenetic Map1414q32.2-32.31CLINVAR
Trait Synonyms: Kagami-Ogata syndrome; Paternal uniparental disomy 14; Uniparental disomy, paternal, chromosome 14; UPD14, paternal
Age Of Onset: neonatal/infancy
Prevalence: 0.6% risk of upd due to nonhomologous robertsonian translocation; 66% risk of upd due to homolgous acrocentric rearrangements

Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9687354
Created: 2015-02-10
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.