ACAD10 A911V - GET-Evidence

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

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Curation:
Currentness:

ACAD10 A911V

(ACAD10 Ala911Val)


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

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

Publications
 

Genomes
 

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
 

    dbSNP
  • rs34245489
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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, ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ACAD10
  • 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 ...
    t1dbase.cimr.cam.ac.uk/page/Overview/display/region_id/275
  • 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. ...
    www.uniprot.org/uniprot/Q6JQN1
  • 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. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:ACD10_HUMAN

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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