EDNRB W275X - 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:

EDNRB W275X

(EDNRB Trp275Stop)


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
 

    GeneTests
  • GeneTests records for the EDNRB gene
    Hirschsprung Disease
    Waardenburg Syndrome Type IV
    EDNRB-Related Hirschsprung Disease
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EDNRB
    Web search results (3 hits -- see all)
  • EDNRB
    EXON. ETHNICITY (Number of families) REFERENCES. EDNRB. Hirschsprung Disease -26G>A. 5' UTR ... Inoue 1998. W275X. 824G>A. exon 4. N/A (1) Kusafuka 1996, 1997. W276C. G>T ...
    hearing.harvard.edu/genepages/ednrbdream.htm
  • ednrb.xls
    (Number of families) REFERENCES. 2. EDNRB. Hirschsprung Disease -26G>A ... W275X. 824G>A. exon 4. N/A (1) Kusafuka 1996, 1997. 12. W276C. G>T. Mennonite (1) Puffenberger ...
    www.hpcgg.org/LMM/SeparatePages/ednrb.xls

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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