FAM83E S387L - 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:

FAM83E S387L

(FAM83E Ser387Leu)


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

  • None available.

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het AGC @ chr19:49106767

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het AGC @ chr19:49106767

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het AGC @ chr19:49106767

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het AGC @ chr19:49106767

 

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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