NPEPPS G322D - GET-Evidence

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

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(NPEPPS Gly322Asp)

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 @ chr17:43018747: 50.0% (4/8) in GET-Evidence
  • Frequency shown in summary reports: 50.0% (4/8)



hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr17:45663749


hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr17:45663749


hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr17:45663749


hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr17:45663749


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr17:45663749


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr17:45663749


GS18502 - var-GS18502-1100-36-ASM
het A @ chr17:43018748


GS18526 - var-GS18526-1100-36-ASM
het A @ chr17:43018748


GS19129 - var-GS19129-1100-36-ASM
het A @ chr17:43018748


Other external references

  • rs1809279
  • Score: 0.999 (probably damaging)
    Web search results (1 hit -- see all)
  • NPEPPS Gene - GeneCards | PSA Protein | PSA Antibody
    NPEPPS Gene in genomic location: bands according to Ensembl, locations according ... Millipore Mono- and Polyclonal Antibodies for the study of NPEPPS ...

Other in silico analyses

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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