TYROBP V55L - 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:

TYROBP V55L

(TYROBP Val55Leu)


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 @ chr19:36398414: 0.9% (97/10758) in EVS
  • A @ chr19:41090253: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (97/10758)

Publications
 

Genomes
 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr19:36398414

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr19:41090254

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr19:41090254

 

Other external references
 

    dbSNP
  • rs77782321
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the TYROBP gene
    Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoen
    TYROBP-Related Polycystic Lipomembranous Osteodysplasia with Scl
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TYROBP
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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