FAM166A P84L - 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.

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Curation:
Currentness:

FAM166A P84L

(FAM166A Pro84Leu)


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 @ chr9:140140111: 1.7% (183/10756) in EVS
  • A @ chr9:139259931: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.7% (183/10756)

Publications
 

Genomes
 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr9:140140111

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr9:140140111

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr9:140140111

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr9:139259932

 

Other external references
 

    dbSNP
  • rs74872755
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.998 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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