SP110 M579I - 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:

SP110 M579I

(SP110 Met579Ile)


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

  • T @ chr2:231036860: 5.9% (638/10758) in EVS
  • T @ chr2:230745103: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 5.9% (638/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr2:231036860

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr2:231036860

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr2:231036860

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr2:230745104

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr2:230745104

 

Other external references
 

    dbSNP
  • rs3948463
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the SP110 gene
    Hepatic Veno-occlusive Disease with Immunodeficiency
    Charcot-Marie-Tooth Neuropathy Type 1
    Charcot-Marie-Tooth Neuropathy Type 1A
    Charcot-Marie-Tooth Neuropathy Type 1E
    Hereditary Neuropathy with Liability to Pressure Palsies
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SP110
    Web search results (1 hit -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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