DHCR7 G244R - GET-Evidence

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

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Curation:
Currentness:

DHCR7 G244R

(DHCR7 Gly244Arg)


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: 0.999 (probably damaging)
    Web search results (2 hits -- see all)
  • 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
  • Two novel mutations of the human delta7-sterol reductase ...
    We analyzed seven unrelated children with the Smith-Lemli-Opitz syndrome (SLOS) for mutations in the delta7-sterol reductase gene by using SSCP and direct sequencing.
    www.medscape.com/medline/abstract/12270273?prt=true

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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