DHCR7 L109P - GET-Evidence

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

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Curation:
Currentness:

DHCR7 L109P

(DHCR7 Leu109Pro)


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

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.423 (possibly damaging)
    Web search results (8 hits -- see all)
  • Mutation analysis and description of sixteen RSH/Smith-Lemli ...
    Smith-Lemli-Opitz syndrome • RSH syndrome • DHCR7 • mutation analysis ... to previously reported mutations (T93M, L109P, G147D, W151X, T154M, R242C, A247V, ...
    www3.interscience.wiley.com/journal/73500694/abstract
  • Mutational Spectrum in the D7-Sterol Reductase Gene and ...
    reductase (DHCR7), which catalyzes the final step in. cholesterol ... zygosity for 0 mutations in DHCR7 appears compatible. with life, suggesting that ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Smith-Lemli-Opitz Syndrome and the DHCR7 Gene
    The human DHCR7 gene is localised on chromosome 11q13 and its structure has been ... one different mutations in the DHCR7 gene have been published to date. ...
    www.slo-deutschland.de/pdf/jira2003.pdf
  • Žádost o molekulárně genetické vyšetření
    Lemli-Opitz syndrom - vyšetření 10 mutací v DHCR7 genu (L109P, W151X, L157P, V326L, R352Q, C380Y, R404C, G410S, R446Q, IVS8-1G>C) ...
    www.cgb-laborator.cz/obsah/vysledky/download/zadost_mg.pdf
  • Aktuality súčasného biomedicínskeho výskumu I.
    Fischerová, Ľubica Strháková, Pavol Ipóth, Ján Chandoga: Canavanova choroba ... Ľuboš Danisšovič, Juraj Krajčovič, Ján Vojtaššák: Testovanie toxicity chemických ...
    www.fmed.uniba.sk/uploads/media/Zbornik_2007.pdf
  • L ABORATORNÍ PRÍ RUCK A
    Vyšetrení 10 mutací v DHCR7. genu ( L109P, W151X, L157P, V326L, R352Q, ... DHCR7 genu. Diagnostika prítomnosti virové DNA humánních papilomaviru ...
    www.pathology.cz/dokumenty/lpm.pdf
  • Genetika Alzheimerovej choroby
    DHCR7. gén. je lokalizovaný: 11q12 -13. DHCR7. gén: 14 100 bp, 9. exónov. a 8. intrónov. kódujúca ... W151X/L109P. 0/TM. Pacient 2. 2,06. 0,40. 0,28. 0,7. 25. L109P/L109P. TM/TM ...
    www.vydavatelstvoasklepios.sk/pdf/genad.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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