RDH12 R161Q - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

RDH12 R161Q

(RDH12 Arg161Gln)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr14:68193731: 11.9% (1279/10758) in EVS
  • A @ chr14:67263483: 7.9% (10/126) in GET-Evidence
  • Frequency shown in summary reports: 11.9% (1279/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr14:68193731

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr14:68193731

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr14:68193731

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr14:68193731

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr14:68193731

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr14:68193731

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr14:68193731

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom A @ chr14:68193731

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr14:68193731

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr14:67263484

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr14:67263484

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr14:67263484

 

Other external references
 

    dbSNP
  • rs17852293
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.941 (probably damaging)
    Web search results (17 hits -- see all)
  • Novel RDH12 mutations associated with Leber congenital ...
    Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: ... R161Q mutant, the amino acid change did not interfere with the Rdh12 ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2441904
  • Retinal degeneration associated with RDH12 mutations results ...
    been shown that mutations in RDH12, encoding a retinol dehydrogenase, result in severe and early-onset ... common p.R161Q RDH12 polymorphism, suggesting that genetic background ...
    hmg.oxfordjournals.org/cgi/reprint/14/24/3865.pdf
  • Novel RDH12 mutations associated with Leber congenital ...
    Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: ... These R161Q, G46G and the A177V sequence changes were shown to be polymorphic. ...
    www.ncbi.nlm.nih.gov/pubmed/17512964
  • Novel RDH12 mutations associated with leber congenital ...
    Novel RDH12 mutations associated with leber congenital amaurosis and cone-rod dystrophy : ... These R161Q, G46G and the A177V sequence changes were shown to be polymorphic. ...
    cat.inist.fr/?aModele=afficheN&cpsidt=18877331
  • Retinal degeneration associated with RDH12 mutations results ...
    Retinal degeneration associated with RDH12 mutations results from decreased 11-cis ... p.R161Q RDH12 polymorphism, suggesting that genetic background may ...
    hmg.oxfordjournals.org/cgi/content/short/ddi411v1
  • Molecular Vision: Seong, Mol Vis 2008; 14:1429-1436. Table 2
    Table 2. Polymorphic sequence variations identified in this study. ... All polymorphic sequence variations in nine genes are presented here. Allele frequency ...
    www.molvis.org/molvis/v14/a171/seong-table2.html
  • Lange, J (Jessica)
    Retinal degeneration associated with RDH12 mutations results from decreased 11-cis ... p.R161Q RDH12 polymorphism, suggesting that genetic background may act as a modifier of ...
    lib.bioinfo.pl/auid:4718003
  • Retinal dehydrogenase 12 (RDH12) mutations in leber ...
    Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: ... These R161Q, G46G and the A177V sequence changes were shown to be polymorphic. ...
    lib.bioinfo.pl/pmid:15322982
  • Search Medical and Societal References - esrnexus
    ESRNexus is a publicly searchable online medical and societal ... p.R161Q RDH12 polymorphism, suggesting that genetic background may act as a modifier of mutation effect. ...
    www.esrnexus.com/advsearch.aspx?txtAuthor=Antinolo

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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