PSG8 S375P - 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:

PSG8 S375P

(PSG8 Ser375Pro)


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

  • G @ chr19:43258605: 0.4% (47/10756) in EVS
  • G @ chr19:47950444: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.4% (47/10756)

Publications
 

Genomes
 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr19:47950445

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr19:47950445

 

Other external references
 

    dbSNP
  • rs1058779
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (1 hit -- see all)
  • PSG8 Gene - GeneCards | PSG8 Protein | PSG8 Antibody
    EntrezGene summary for PSG8: The human pregnancy-specific glycoproteins (PSGs) are a ... PSG8 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=PSG8&snp=94

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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