GBA R463H - GET-Evidence

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

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Curation:
Currentness:

GBA R463H

(GBA Arg463His)


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

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (15 hits -- see all)
  • Yale DNA Diagnostic Services
    OTCD Links. GBA gene. Gaucher Disease (OMIM) Gaucher Disease (GeneTests) ... L444P, 84GG, IVS2+1, V394L, D409H, D409V, R463C, R463H, R496H, 55bp deletion. ...
    info.med.yale.edu/genetics/DNA/Gaucher.html
  • Mutation analysis and genotype/phenotype relationships of ...
    2007;52(5):391-6. Epub 2007 Apr 11. Mutation analysis and genotype/phenotype ... of the mutated GBA alleles, finding 56 different GBA mutations and 66 genotypes ...
    www.ncbi.nlm.nih.gov/pubmed/17427031
  • Gaucher Disease
    fication of glucocerebrosidase (GBA) gene sequences, and the. subsequent detection of ... the GBA sequence was first published in 1985, more than 120 ...
    www.viennalab.com/pdf/4250.pdf
  • Gaucher Disease -- GeneReviews -- NCBI Bookshelf
    ... of two disease-causing alleles in GBA, the only gene known to be associated ... Sequence analysis of the GBA coding region may be used to detect mutations in ...
    ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gaucher
  • Journal of Human Genetics - Abstract of article: Mutation ...
    Journal of Human Genetics, official journal of the Japan Society of Human Genetics, publishes original articles and reviews on all aspects of human genetics, ...
    www.nature.com/jhg/journal/v52/n5/abs/jhg200752a.html
  • palfonso - Publications List
    publicationslist.org, palfonso, online hosting of academic publications list, improve impact factor and citations, easier for people to cite your work
    publicationslist.org/palfonso
  • Orphanet: Einfache Suche
    Das Portal für seltene Krankheiten und Orphan Drugs ... disease (GBA gene): Target mutation analysis - panel of mutation (N370S, R496H, V394L, R463H) CGC Genetics ...
    orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?...
  • ゴーシェ病
    GBA遺伝子コード領域のシークエンス解析は,既知の変異の解析で変異が1つしか同定されない患者に対し,もう1つの変異を検出する目的で ... 変異,D409V変異,R463C変異,R463H変異,R496H変異,55塩基欠失(エクソン9)である. 表2 よく見られる4個の変異パネルを用いたGBA変異保持者の割合. 変異 ...
    grj.umin.jp/grj/gaucher.htm
  • BOOK OF ABSTRACTS
    Josefina Casas, Gemma Fabriàs, Gemma Marfany, Roser González-Duarte ... Riccardo Ghidoni, Anton Gómez-Muñoz, Thierry Levade, Gerhild van Echten-Deckert ...
    sphingolipidclub.com/data/Sphingolipid Club 2006 - Book o...
  • Type II- 99%
    ... 10844560 15489334 10599883 14574404 12366786 12472658 11169256 GBA P04062 D448H 451 VAR_003313 PDGFR (0.741) ... (dbSNP:rs9673733) G6PD P11413 R463H 466 VAR_002514 RSK (0.929) ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_99.txt

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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