MLC1 C171F - GET-Evidence

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

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Curation:
Currentness:

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MLC1 C171F

(MLC1 Cys171Phe)


You are viewing an old version of this page that was saved on December 6, 2010 at 8:23pm by Genome Importing Robot.

Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • A @ chr22:50515843: 10.6% (1135/10758) in EVS
  • A @ chr22:48857969: 10.2% (13/128) in GET-Evidence
  • Frequency shown in summary reports: 10.6% (1135/10758)

Publications
 

Genomes
 

Added in this revision:

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom A @ chr22:50515843

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr22:50515843

 

NA07022

 

snp-26

 

snp-30

 

snp-32

 

Other external references
 

    dbSNP
  • rs6010260
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.04 (benign)
    Web search results (12 hits -- see all)
  • Sequence diversity of KIAA0027/MLC1: are megalencephalic ...
    Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and ... Two of them, C171F and N218K, were observed in controls at a significant frequency. ...
    www.ncbi.nlm.nih.gov/pubmed/12497630
  • Sequence diversity of KIAA0027/MLC1: are megalencephalic ...
    Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and ... Two of them, C171F and N218K, were observed in controls at a significant frequency. ...
    www.medscape.com/medline/abstract/12497630
  • Sequence diversity of KIAA0027/MLC1: are megalencephalic ...
    KIAA0027 • megalencephalic leukoencephalopathy • MLC1 • catatonia • schizophrenia • SNP ... Two of them, C171F and N218K, were observed in controls at a significant frequency. ...
    www3.interscience.wiley.com/journal/102519806/abstract
  • Catatonia :: genetics
    BioInfoBank Library :: Catatonia :: genetics :: [Dual manifestation of catatonic reaction ... Two of them, C171F and N218K, were observed in controls at a significant frequency. ...
    lib.bioinfo.pl/meid:128952
  • Lichtner, P (Peter)
    Lichtner, P (Peter) :: Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? Mutations in LRRK2 cause ...
    lib.bioinfo.pl/auid:1400940

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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