DHCR7 H119L - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

DHCR7 H119L

(DHCR7 His119Leu)


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
  • The Smith-Lemli-Opitz syndrome A multiple malformation ...
    DHCR7-enzyme activity has been studied in fibroblasts, liver microsomes and ... DHCR7 (Gen Bank accession number: AF034544) was identified in 1998 and assigned to ...
    jeroenboschziekenhuis.nl/jbz/.../Proefschrift_Petr_Jira.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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