HLCS D571N - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

HLCS D571N

(HLCS Asp571Asn)


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
 

    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (2 hits -- see all)
  • OMIM: 609018
    0003 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HLCS, ASP571ASN In a patient with ... transition in the HLCS gene, resulting in an asp571-to-asn (D571N) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+609018
  • ホロカルボキシラーゼ合成酵素欠損症
    ホロカルボキシラーゼ合成酵素 holocarboxylase synthetase (HLCS)(遺伝子座 21p22.1) ... p.V550M、p.G581S、p.D571N、 p.R565X などが民族を超えて検出される。 p.R508W は日本人患者でも検出され、日本人患者で 3 番目. に頻度が多い ...
    www.onj.jp/list/download/HLCS.pdf

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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