PPP1R15A A32T - 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:

PPP1R15A A32T

(PPP1R15A Ala32Thr)


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 @ chr19:49376584: 4.5% (484/10750) in EVS
  • A @ chr19:54068395: 6.7% (8/120) in GET-Evidence
  • Frequency shown in summary reports: 4.5% (484/10750)

Publications
 

Genomes
 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr19:49376584

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr19:49376584

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr19:49376584

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr19:54068396

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr19:54068396

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr19:54068396

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr19:54068396

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr19:54068396

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr19:54068396

 

Other external references
 

    dbSNP
  • rs3786734
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.96 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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