GBA R463H - GET-Evidence

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

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(GBA Arg463His)

You are viewing the latest version of this page, saved on May 21, 2010 at 12:10am by Counsyl Test Importing Robot.

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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

  • None available.



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. ...
  • 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 ...
  • Gaucher Disease
    fication of glucocerebrosidase (GBA) gene sequences, and the. subsequent detection of ... the GBA sequence was first published in 1985, more than 120 ...
  • 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 ...
  • 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, ...
  • palfonso - Publications List, palfonso, online hosting of academic publications list, improve impact factor and citations, easier for people to cite your work
  • 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 ...
  • 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 ...
    Josefina Casas, Gemma Fabriàs, Gemma Marfany, Roser González-Duarte ... Riccardo Ghidoni, Anton Gómez-Muñoz, Thierry Levade, Gerhild van Echten-Deckert ... 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) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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