DHCR7 R352Q - GET-Evidence

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

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Curation:
Currentness:

DHCR7 R352Q

(DHCR7 Arg352Gln)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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: 1.0 (probably damaging)
    Web search results (49 hits -- see all)
  • BioPortfolio - DHCR7
    A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal ... R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz ...
    www.bioportfolio.com/search/DHCR7.html
  • Spectrum of DHCR7 mutations in Slovak patients with Smith ...
    Mutations in the DHCR7 gene lead to a 7-dehydrocholesterol reductase deficiency, which is the final enzyme in ... W151X and missense mutations V326L, L109P, G410S, R352Q, Y432C. ...
    www.ncbi.nlm.nih.gov/pubmed/19390132
  • DHCR7
    Genetic analysis of the DHCR7 gene identified a novel missense ... N, Tsukahara M, Matsuura S. R352Q mutation. of the DHCR7 gene is common among Japanese ...
    jkms.org/Synapse/Data/PDFData/0063JKMS/jkms-25-159.pdf
  • Journal of Korean Medical Science
    A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis ... Tsukahara M,Matsuura S. R352Q mutation of the DHCR7 gene is common among ...
    jkms.org/DOIx.php?id=10.3346/jkms.2010.25.1.159
  • EC 1.3.1.21 - 7-dehydrocholesterol reductase
    Information on EC 1.3.1.21 - 7-dehydrocholesterol reductase ... R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome ...
    www.brenda-enzymes.org/php/result_flat.php4?ecno=1.3.1.21
  • Mutational Spectrum in the D7-Sterol Reductase Gene and ...
    zygosity for 0 mutations in DHCR7 appears compatible. with life, suggesting that ... patients were IVS 8–1GrC; R 352Q/R352Q (D80) and IVS 8-1GrC; T93 M ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Science Links Japan | J Hum Genet
    Do monochorionic dizygotic twins increase after pregnancy by assisted reproductive technology? ... R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz ...
    sciencelinks.jp/j-east/journal/J/Z0756A/2005.php
  • Mutational Spectrum in the Δ7-Sterol Reductase Gene and ...
    Mutations in DHCR7 in patients who have SLOS were also found by ... the DHCR7 Gene of 84 Patients with SLOS. Homozygotes were also identified for R404C, W151X, R352Q, and C380Y. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1288092
  • 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
  • TropHort: Top > Research > Chapter 12477
    R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients. R353Q polymorphism, activated factor VII, and risk ...
    trophort.com/research/012/476

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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