SURF1 D202H - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

SURF1 D202H

(SURF1 Asp202His)


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

  • G @ chr9:136219448: 0.1% (8/10758) in EVS
  • G @ chr9:135209268: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (8/10758)

Publications
 

Genomes
 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr9:136219448

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr9:136219448

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr9:135209269

 

Other external references
 

    dbSNP
  • rs72619327
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the SURF1 gene
    Leigh Syndrome (nuclear DNA mutation)
    Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear g
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SURF1
    PolyPhen-2
  • Score: 0.978 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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