FANCA W171X - 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:

FANCA W171X

(FANCA Trp171Stop)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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 (3 hits -- see all)
  • FANCA Mutations
    FANCA. PolyMut. mutation. Mutation. 1471_1626del156. Published Name. 1515-1670del. Amino acid ... W171X. Exon. exon 5. Type. stop codon. Comment. Source. Bouchlaka et al., J. ...
    www.rockefeller.edu/fanconi/mutate/public/faamut_pub.html
  • OMIM: 607139
    Northern blot analysis detected several Fanca transcripts expressed in all adult ... (W171X) substitution, and therefore to a premature truncation of the FANCA ...
    www.genome.jp/dbget-bin/www_bget?omim+607139
  • FLUORESCENCE IN SITU HYBRIDIZATION AS A DIAGNOSTIC TOOL FOR ...
    FANCA and FANCC mutations are the most prevalent, accounting 65% and ... families (FANCA) from Spain with an estimated carrier frequency of 1 in 64 to 1 ...
    etd.uovs.ac.za/ETD-db/theses/.../unrestricted/NogabeSJ.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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