WNT10B P301S - 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:

WNT10B P301S

(WNT10B Pro301Ser)


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 @ chr12:49360147: 1.2% (124/10756) in EVS
  • Frequency shown in summary reports: 1.2% (124/10756)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.418 (possibly damaging)
    Web search results (7 hits -- see all)
  • WNT10B mutations in human obesity.
    2006 Apr;49(4):678-84. Epub 2006 Feb 14. WNT10B mutations in human obesity. ... determine whether mutations in WNT10B contribute to human obesity, we ...
    www.ncbi.nlm.nih.gov/pubmed/16477437
  • roberto.vettor - Publications List
    publicationslist.org, roberto.vettor, online hosting of academic publications list, improve impact factor and citations, easier for people to cite your work
    publicationslist.org/roberto.vettor
  • (txt)
    They are speculative and should be used for exploratory research purposes only. ... Nrp2,Plxna3,Ppp3ca,Prnp-MAPT*P301S,St8sia2,Tuba1a 84 abnormal hippocampus ...
    www.grc.nia.nih.gov/branches/rrb/dna/data/table-s7.txt
  • WNT10B Gene - GeneCards | WN10B Protein | WN10B Antibody
    EntrezGene summary for WNT10B: The WNT gene family consists of structurally related genes ... WNT10B Gene in genomic location: bands according to Ensembl, ...
    genecards.org/cgi-bin/carddisp.pl?gene=WNT10B&...&snp=28
  • Springer Images
    Functional properties of wild-type, C256Y and P301S WNT10B in cultured 3T3-L1 cells. ... of wild-type, C256Y and P301S WNT10B on TOP-Flash reporter activity ...
    springerimages.com/rss.xml?val=keyword:Human&...
  • Cerebrospinal fluid pressure in pyogenic meningitis.
    BioInfoBank Library :: Cerebrospinal fluid pressure in pyogenic meningitis. Discrepancies between brain CT imaging and severely raised intracranial pressure proven ...
    lib.bioinfo.pl/pmid:2673052
  • Scarda, A (A)
    Scarda, A (A) :: Effects of ipriflavone on bone remodeling in primary hyperparathyroidism. Biochemical picture accompanying sclerotic bone metastases ...
    lib.bioinfo.pl/auid:636253

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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