TSEN54 V190M - 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:

TSEN54 V190M

(TSEN54 Val190Met)


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 @ chr17:73517536: 4.1% (437/10758) in EVS
  • A @ chr17:71029130: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 4.1% (437/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr17:73517536

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr17:73517536

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr17:73517536

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr17:73517536

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr17:71029131

 

NA12878

 

Other external references
 

    dbSNP
  • rs79508780
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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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