SERPINE1 A15T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(SERPINE1 Ala15Thr)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr7:100771717: 8.4% (903/10758) in EVS
  • A @ chr7:100558436: 8.7% (11/126) in GET-Evidence
  • Frequency shown in summary reports: 8.4% (903/10758)




hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr7:100771717


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr7:100771717


huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr7:100771717


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr7:100771717


huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr7:100771717


GS10851 - var-GS10851-1100-36-ASM
het A @ chr7:100558437


GS18558 - var-GS18558-1100-36-ASM
het A @ chr7:100558437


GS18940 - var-GS18940-1100-36-ASM
het A @ chr7:100558437


GS19648 - var-GS19648-1100-36-ASM
het A @ chr7:100558437


GS19670 - var-GS19670-1100-36-ASM
hom A @ chr7:100558437


GS20509 - var-GS20509-1100-36-ASM
het A @ chr7:100558437


Other external references

  • rs6092
  • Score: 0.002 (benign)
    Web search results (3 hits -- see all)
  • Table 3 Text
    ... total chromosomes genotyped MAF mean MAF stdev chromosomes genotyped ... criterion prediction score number sequences aligned prediction score divergence ...
  • PLAU Gene, PLAU Transcript, PLAU Protein, and PLAU Antibody ...
    Homo sapiens. This gene encodes a serine protease involved in degradation of the ... "Plasminogen activator inhibitor variants PAI-1 A15T and PAI-2 S413C influence lung cancer ...
  • PLAU Gene - GeneCards | UROK Protein | UROK Antibody
    Complete information for PLAU gene (protein-coding), plasminogen activator, urokinase

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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