SP110 G126S - 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 G126S

(SP110 Gly126Ser)


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 @ chr2:231077683: 1.2% (133/10758) in EVS
  • T @ chr2:230785926: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.2% (133/10758)

Publications
 

Genomes
 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr2:231077683

 

Other external references
 

    dbSNP
  • rs41309088
    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 (5 hits -- see all)
  • Type III 97%
    ... family Removed kinase gruop Effect Reference(s) for variant Reference(s) for phosphorylation site TPSD1 ... 931) RSK (0.910) OS 9630231 SP110 Q9HB58 E207K 210 VAR_027173 CK2 (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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