ACADM S220L - GET-Evidence

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

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Curation:
Currentness:

ACADM S220L

(ACADM Ser220Leu)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (4 hits -- see all)
  • OMIM 607008 - Acil CoA deidrogenasi a catena media; ACADM
    In 2 casi, ACADM gene analisi rilevarono eterozigosità composta per the comune ... 9 della ACADM gene, causante in a ser220-to-leu (S220L) mutazione. ...
    www.fonama.org/i_omim/mito6/i_607008.html
  • Mendelian Inheritance in Man Document Reader
    In 2 cases, ACADM gene analysis revealed compound heterozygosity for the common ... 607008.0003) and the S220L mutation (607008.0012), respectively. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+201450
  • OMIM 201450 - Carenza di acil CoA deidrogenasi a media catena
    ACADM CARENZA. MCAD CARENZA. MCADH CARENZA. CARNITINA CARENZA SECONDARIA ... 2 casi, le analisi del gene ACADM rilevarono eterozigosità composta per la mutazione ...
    www.fonama.org/i_omim/mito2/i_201450.html
  • OMIM: 607008
    In 2 cases, ACADM gene analysis revealed compound heterozygosity for the common ... 9 of the ACADM gene, resulting in a ser220-to-leu (S220L) mutation. ...
    www.genome.jp/dbget-bin/www_bget?mim:607008

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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