UNC13D I283V - 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:

UNC13D I283V

(UNC13D Ile283Val)


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

  • C @ chr17:73836317: 0.9% (98/10758) in EVS
  • C @ chr17:71347911: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (98/10758)

Publications
 

Genomes
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr17:73836317

 

Other external references
 

    dbSNP
  • rs61754871
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the UNC13D gene
    Familial Hemophagocytic Lymphohistiocytosis
    Familial Hemophagocytic Lymphohistiocytosis 3
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UNC13D
    PolyPhen-2
  • Score: 0.307 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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