DIAPH3 P588L - 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:

DIAPH3 P588L

(DIAPH3 Pro588Leu)


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 @ chr13:60545182: 2.9% (289/9864) in EVS
  • A @ chr13:59443182: 1.6% (2/122) in GET-Evidence
  • Frequency shown in summary reports: 2.9% (289/9864)

Publications
 

Genomes
 

 

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr13:60545182

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr13:60545182

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr13:59443183

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr13:59443183

 

Other external references
 

    dbSNP
  • rs111260336
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (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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