GALC R168C - GET-Evidence

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

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Curation:
Currentness:

GALC R168C

(GALC Arg168Cys)


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 -
 

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 (9 hits -- see all)
  • Jefferson Digital Commons
    We describe the cloning of the canine GALC cDNA and the identification of the disease-causing mutation in ... human polymorphisms, R168C and I546T, on murine GALC activity were ...
    jdc.jefferson.edu/dissertations/AAI9727336
  • Krabbe Disease - GeneReviews
    Disease overview, diagnosis, clinical description, testing, genetic counseling, and ... Molecular genetic testing of GALC may be used for carrier detection in at-risk relatives ...
    www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=krabbe
  • Krabbe Disease
    measurement of GALC enzyme activity in leukocytes or in cultured skin fibroblasts is ... either by measurement of GALC enzyme activity (ideally, GALC enzyme activity should be ...
    ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?...&blobtype=pdf
  • Newborn Screening for Krabbe Disease in Newborn Screening for ...
    (GALC) (GALC) Mutations in. GALC. Decreased ability to degrade galactolipids. Decreased ... p.R168C. p.Y551S. RT-FRET-PCR. c.602C>T (p.R168C) c.694G>A (p.694G>A) c. ...
    aphl.org/profdev/conferences/.../NBS_for_Krabbe_Disease.pdf
  • JMD CME Program in Molecular Diagnostics 2006
    JMD CME Program in Molecular Diagnostics. The Journal of Molecular Diagnostics, ... The Journal of Molecular Diagnostics, Volume 8, No. 5 (November 2006) ...
    jmd.amjpathol.org/cgi/issue_pdf/backmatter_pdf/8/5.pdf
  • Founder mutations among the Dutch
    R168C. 66,67. H20P. Founder mutations among the Dutch. MPA Zeegers et al. 598. European Journal ... tions in the GALC gene of patients with Krabbe disease of Dutch ...
    nidi.knaw.nl/en/output/2004/.../ejhg-12-07-zeegers.pdf
  • Type II- 95%
    ... (0.500) Polymorphism (dbSNP:rs608339) GALC P54803 F498S 502 VAR_003397 CK2 (0. ... AKT (0.554) OPTB4 14584882 GALC P54803 R168C 176 VAR_013960 PDGFR (0.507) ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Type II- 97%
    ... AKT (0.554) OPTB4 14584882 GALC P54803 R168C 176 VAR_013960 PDGFR (0.507) ... (0.553) Polymorphism (dbSNP:rs10504829) GALC P54803 G95D 96 VAR_003380 CAMKL (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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