ACAD10 A911V - GET-Evidence

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

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ACAD10 A911V

(ACAD10 Ala911Val)

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

  • T @ chr12:112186274: 3.2% (340/10758) in EVS
  • Frequency shown in summary reports: 3.2% (340/10758)



hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr12:112186274


hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr12:112186274



huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr12:112186274


Other external references

  • rs34245489
    Web search results (11 hits -- see all)
  • ACAD10 Gene - GeneCards | ACD10 Protein | ACD10 Antibody
    EntrezGene summary for ACAD10: This gene encodes a member of the acyl-CoA dehydrogenase ... ACAD10 Gene in genomic location: bands according to Ensembl, ...
  • T1DBase - 12q24.12 Region Overview
    S/P. ACAD10. 80724. 660. rs34245489. dbSNP_130. 110670657. A/V. ACAD10 ... PTPN11 RPL6 ATXN2 LOC642580 LOC728543 C12orf30 ACAD10 BRAP MAPKAPK5 TMEM116 ...
  • Acyl-CoA dehydrogenase family member 10 - Homo sapiens (Human)
    ACAD10. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... "Cloning and characterization of a human cDNA ACAD10 mapped to chromosome 12q24.1. ...
  • UniProt: ACD10_HUMAN
    AC Q6JQN1; Q8N828; Q8NAP2; Q96BX5; DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot. ... characterization of a human cDNA ACAD10 mapped to RT chromosome 12q24. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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