NLRP7 A481T - 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:

NLRP7 A481T

(NLRP7 Ala481Thr)


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

  • T @ chr19:55450746: 11.7% (1263/10758) in EVS
  • T @ chr19:60142557: 8.5% (10/118) in GET-Evidence
  • Frequency shown in summary reports: 11.7% (1263/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr19:55450746

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr19:55450746

 

 

hu604D39

 

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr19:55450746

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr19:60142558

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr19:60142558

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr19:60142558

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr19:60142558

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr19:60142558

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr19:60142558

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr19:60142558

 

Other external references
 

    dbSNP
  • rs61747414
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (8 hits -- see all)
  • INFEVERS - Sequences
    Infevers Database (Sequences) NLRP7 (NALP7/PYPAF3/NOD12/PAN7/CLR19.4) (NM_001127255.1) ... On mouse over the sequence, you will pop-up the name of the nt and aa ...
    fmf.igh.cnrs.fr/ISSAID/infevers/sequence.php?n=8&...&prot=0
  • Infevers - NLRP7 (NC_000019.8) - gDNA - 2010-02-15
    Infevers - NLRP7 (NC_000019.8) - gDNA - 2010-02-15. agtcacagct cactgcagcc tcaaactcct ... GGA. 55450724. A481T. E486GfsX42. G487E. GGACAGGGAC GGCCACGCCT GGGACAT. C ...
    fmf.igh.cnrs.fr/ISSAID/infevers/libPHP/...?n=8

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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