MED12 N1007S - GET-Evidence

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

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Curation:
Currentness:

MED12 N1007S

(MED12 Asn1007Ser)


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
 

    Web search results (114 hits -- see all)
  • The original Lujan Syndrome Family has a novel missense ...
    Schwartz, Charles E.; Tarpey, Patrick S; Lubs, Herbert A; Verloes, Alain; May, Melanie M; Risheg, Hiba; Friez, Michael J; Futreal, P Andrew; Edkins, Sarah; Teague, ...
    jmg.bmj.com/content/early/2007/03/16/...?papetoc
  • The original Lujan syndrome family has a novel missense ...
    Schwartz, Charles E; Tarpey, Patrick S; Lubs, Herbert A; Verloes, Alain; May, Melanie M; Risheg, Hiba; Friez, Michael J; Futreal, P Andrew; Edkins, Sarah; Teague, ...
    jmg.bmj.com/content/44/7/472.abstract
  • Adelaide Research and Scholarship: The original Lujan ...
    The University of Adelaide Library. North Terrace. ADELAIDE SA 5005 ... syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene ...
    digital.library.adelaide.edu.au/dspace/handle/2440/44515
  • MED12 - References - Genetics Home Reference
    Philibert RA, Madan A. Role of MED12 in transcription and human behavior. ... Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. ...
    ghr.nlm.nih.gov/gene=med12/show/References
  • MED12 - mediator complex subunit 12 - Genetics Home Reference
    The MED12 gene is also known by other names, listed below. ... serine at position 1007 of the MED12 protein (written as Asn1007Ser or N1007S) ...
    ghr.nlm.nih.gov/gene=med12
  • Adelaide Research and Scholarship: Genetics Publications
    Adelaide Research and Scholarship : Schools and Disciplines : School of Molecular and Biomedical Science : ... family has a novel missense mutation (p. N1007S) in the MED12 gene ...
    digital.library.adelaide.edu.au/dspace/handle/2440/11376
  • BioPortfolio - MED12 - mediator complex subunit 12
    MED12 - mediator complex subunit 12 - Bioportfolio ... The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. 17299734 ...
    www.bioportfolio.com/gene/9968-MED12.html
  • Lujan-Fryns syndrome
    The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene ... family has a novel missense mutation (p.N1007S) in the MED12 gene ...
    gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?...
  • Mediator Modulates Gli3-Dependent Sonic Hedgehog Signaling ...
    Disruption of the Gli3-MED12 interaction through dominant-negative interference ... Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. ...
    mcb.asm.org/cgi/content/abstract/26/23/8667
  • Mediator modulates Gli3-dependent Sonic hedgehog signaling ...
    Disruption of the Gli3-MED12 interaction through dominant negative interference inhibited ... Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. ...
    mcb.asm.org/cgi/content/short/MCB.00443-06v1

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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