SCO1 P58S - 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:

SCO1 P58S

(SCO1 Pro58Ser)


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 @ chr17:10600653: 5.1% (538/10480) in EVS
  • A @ chr17:10541377: 6.7% (8/120) in GET-Evidence
  • Frequency shown in summary reports: 5.1% (538/10480)

Publications
 

Genomes
 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr17:10600653

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr17:10541378

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr17:10541378

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr17:10541378

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr17:10541378

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr17:10541378

 

Other external references
 

    dbSNP
  • rs1802083
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the SCO1 gene
    Leigh Syndrome (nuclear DNA mutation)
    Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear g
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCO1
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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