DHCR7 M1L - GET-Evidence

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

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Curation:
Currentness:

DHCR7 M1L

(DHCR7 Met1Leu)


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: 0.98 (probably damaging)
    Web search results (2 hits -- see all)
  • OMIM: 270400
    Nowaczyk et al. (2001) reported the DHCR7 mutations in this family. The brothers' father had the rare thr289 ... for a novel mutation (M1L; 602858.0017) affecting initiation ...
    www.genome.jp/dbget-bin/www_bget?omim+270400
  • Abnormal bile acids in the Smith-Lemli-Opitz syndrome.
    BioInfoBank Library :: Abnormal bile acids in the Smith-Lemli-Opitz syndrome. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz ...
    lib.bioinfo.pl/pmid:8209917

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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