ETFA T171I - GET-Evidence

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

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Curation:
Currentness:

ETFA T171I

(ETFA Thr171Ile)


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 @ chr15:76578762: 6.2% (666/10758) in EVS
  • A @ chr15:74365816: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 6.2% (666/10758)

Publications
 

Genomes
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr15:76578762

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr15:76578762

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr15:76578762

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr15:76578762

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr15:76578762

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr15:76578762

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr15:74365817

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr15:74365817

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr15:74365817

 

Other external references
 

    dbSNP
  • rs1801591
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (7 hits -- see all)
  • ETFA Gene - GeneCards | ETFA Protein | ETFA Antibody
    Complete information for ETFA gene (protein-coding), electron-transfer-flavoprotein, alpha polypeptide
    www.genecards.org/cgi-bin/carddisp.pl?gc_id=GC15M074295
  • Method of Diagnosing the Risk of Thermolabile Phenotype ...
    The invention relates to a method of diagnosing a risk of a thermolabile phenotype disease including or caused by influenza encephalitis/encephalopathy, Reye's ...
    www.freepatentsonline.com/y2008/0187918.html
  • Type II- 95%
    ... (s) for variant Reference(s) for phosphorylation site ENPEP Q07075 R213Q 216 VAR_030359 ... sample, somatic mutation 16959974 ETFA P13804 T171I 182 VAR_008547 gCK1 (0.578) ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_95.txt
  • ACADVL Gene - GeneCards | ACADV Protein | ACADV Antibody
    Complete information for ACADVL gene (protein-coding), acyl-Coenzyme A dehydrogenase, very long chain ... be associated with the variant T171I of ETFA) and a high mortality;a ...
    www.genecards.org/cgi-bin/previous/carddisp.pl?gene=ACADVL

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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