GBA3 M172I - 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:

GBA3 M172I

(GBA3 Met172Ile)


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

  • A @ chr4:22749148: 3.3% (320/9788) in EVS
  • A @ chr4:22358245: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 3.3% (320/9788)

Publications
 

Genomes
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr4:22749148

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr4:22358246

 

GS18508 - var-GS18508-1100-36-ASM
hom A @ chr4:22358246

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr4:22358246

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr4:22358246

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr4:22358246

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr4:22358246

 

Other external references
 

    dbSNP
  • rs36090352
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (5 hits -- see all)
  • GBA3 Gene - GeneCards | GBA3 Protein | GBA3 Antibody
    EntrezGene summary for GBA3: GBA3, or cytosolic beta-glucosidase (EC ... GBA3 Gene in genomic location: bands according to Ensembl, locations according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=GBA3
  • Cytosolic beta-glucosidase - Homo sapiens (Human)
    ... OS=Homo sapiens GN=GBA3 PE=1 SV=2 MAFPAGFGWAAATAAYQVEGGWDADGKGPCVWDTFTHQGGERVFKNQTGDVACGSYTLWE EDLKCIKQLGLTHYRFSLSWSRLLPDGTTGFINQKGIDYYNKIIDDLLKNGVTPIVTLYH ...
    www.uniprot.org/uniprot/GBA3_HUMAN
  • UniProt: Q9H227
    DT 11-OCT-2005, sequence version 2. DT 20-APR-2010, entry version 78. DE RecName: ... like protein 1; GN Name=GBA3; Synonyms=CBG, CBGL1; OS Homo sapiens ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q9H227

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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