NPEPPS G322D - GET-Evidence

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

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Curation:
Currentness:

(See the latest version)

NPEPPS G322D

(NPEPPS Gly322Asp)


You are viewing an old version of this page that was saved on November 29, 2012 at 5:31am by Genome Importing Robot.

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

Publications
 

Genomes
 

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

 

Added in this revision:

hu43860C - CGI sample GS00253-DNA_A01_200_37
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
 

    dbSNP
  • rs1809279
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • 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 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=NPEPPS

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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