NC_000014.9:g.100806482_101281031del474550Rat Genome Database

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

Symbol: CV171731
Name: NC_000014.9:g.100806482_101281031del474550
RGD ID: 9687354
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)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.100806482_101281031del474550
NC_000014.8:g.101272819_101747368del
Position
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     Click to see Annotation Detail View


References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:18176563  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000149429 CLINVAR
MedGen C1842466 CLINVAR
NCBI Gene LINC02285 CLINVAR
  MEG3 CLINVAR
  MEG8 CLINVAR
  MEG9 CLINVAR
  MIR1185-1 CLINVAR
  MIR1185-2 CLINVAR
  MIR1193 CLINVAR
  MIR1197 CLINVAR
  MIR127 CLINVAR
  MIR134 CLINVAR
  MIR136 CLINVAR
  MIR154 CLINVAR
  MIR2392 CLINVAR
  MIR299 CLINVAR
  MIR300 CLINVAR
  MIR323A CLINVAR
  MIR323B CLINVAR
  MIR329-1 CLINVAR
  MIR329-2 CLINVAR
  MIR337 CLINVAR
  MIR369 CLINVAR
  MIR370 CLINVAR
  MIR376A1 CLINVAR
  MIR376A2 CLINVAR
  MIR376B CLINVAR
  MIR376C CLINVAR
  MIR377 CLINVAR
  MIR379 CLINVAR
  MIR380 CLINVAR
  MIR381 CLINVAR
  MIR381HG CLINVAR
  MIR382 CLINVAR
  MIR409 CLINVAR
  MIR410 CLINVAR
  MIR411 CLINVAR
  MIR412 CLINVAR
  MIR431 CLINVAR
  MIR432 CLINVAR
  MIR433 CLINVAR
  MIR485 CLINVAR
  MIR487A CLINVAR
  MIR487B CLINVAR
  MIR493 CLINVAR
  MIR494 CLINVAR
  MIR495 CLINVAR
  MIR496 CLINVAR
  MIR539 CLINVAR
  MIR541 CLINVAR
  MIR543 CLINVAR
  MIR544A CLINVAR
  MIR654 CLINVAR
  MIR655 CLINVAR
  MIR656 CLINVAR
  MIR665 CLINVAR
  MIR668 CLINVAR
  MIR758 CLINVAR
  MIR770 CLINVAR
  MIR889 CLINVAR
  RTL1 CLINVAR
  SNHG23 CLINVAR
  SNHG24 CLINVAR
  SNORD112 CLINVAR
  SNORD113-1 CLINVAR
  SNORD113-2 CLINVAR
  SNORD113-3 CLINVAR
  SNORD113-4 CLINVAR
  SNORD113-5 CLINVAR
  SNORD113-6 CLINVAR
  SNORD113-7 CLINVAR
  SNORD113-8 CLINVAR
  SNORD113-9 CLINVAR
  SNORD114-1 CLINVAR
  SNORD114-10 CLINVAR
  SNORD114-11 CLINVAR
  SNORD114-12 CLINVAR
  SNORD114-13 CLINVAR
  SNORD114-14 CLINVAR
  SNORD114-15 CLINVAR
  SNORD114-16 CLINVAR
  SNORD114-17 CLINVAR
  SNORD114-18 CLINVAR
  SNORD114-19 CLINVAR
  SNORD114-2 CLINVAR
  SNORD114-20 CLINVAR
  SNORD114-21 CLINVAR
  SNORD114-22 CLINVAR
  SNORD114-23 CLINVAR
  SNORD114-24 CLINVAR
  SNORD114-25 CLINVAR
  SNORD114-26 CLINVAR
  SNORD114-27 CLINVAR
  SNORD114-28 CLINVAR
  SNORD114-29 CLINVAR
  SNORD114-3 CLINVAR
  SNORD114-30 CLINVAR
  SNORD114-31 CLINVAR
  SNORD114-4 CLINVAR
  SNORD114-5 CLINVAR
  SNORD114-6 CLINVAR
  SNORD114-7 CLINVAR
  SNORD114-8 CLINVAR
  SNORD114-9 CLINVAR
OMIM 605636 CLINVAR
  608149 CLINVAR
  610164 CLINVAR
  610959 CLINVAR
  610960 CLINVAR
  610961 CLINVAR
  610983 CLINVAR
  611708 CLINVAR
  611709 CLINVAR
  611710 CLINVAR
  611711 CLINVAR
  611794 CLINVAR
  611896 CLINVAR
  612553 CLINVAR
  613648 CLINVAR
  613649 CLINVAR
  613650 CLINVAR
  613651 CLINVAR
  613654 CLINVAR
  614057 CLINVAR
  615036 CLINVAR
  615037 CLINVAR
  615149 CLINVAR
  615385 CLINVAR
  616036 CLINVAR
  616358 CLINVAR
  616376 CLINVAR