VWDE R385X - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

VWDE R385X

(VWDE Arg385Stop)


Short summary

 

Variant evidence
Computational 2

Variant Effect Predictor (Ensembl ): Stop gained
Mutation Tasting Prediction: Polymorphism p value: 2.938146 e-9; NMD; amino acid sequence changed; protein features (might be) affected.

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 @ chr7:12414725: 13.2% (426/3232) in EVS
  • Frequency shown in summary reports: 13.2% (426/3232)

Publications
 

Genomes
 

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr7:12414725

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr7:12414725

 

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
het A @ chr7:12381250

 

 

 

Other external references
 

    dbSNP
  • rs17165936
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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