ETFA T171I - GET-Evidence

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

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(ETFA Thr171Ile)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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

  • rs1801591
  • 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
  • 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 ...
  • 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) ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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