NLRP7 K511R - 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 K511R

(NLRP7 Lys511Arg)


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

  • C @ chr19:55450655: 3.4% (366/10758) in EVS
  • C @ chr19:60142466: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 3.4% (366/10758)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr19:55450655

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr19:55450655

 

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr19:60142467

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr19:60142467

 

Other external references
 

    dbSNP
  • rs61743949
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.02 (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 ... 55450624. K511R. TTATTCGGCC TCGCTAACGA GAAGAGAGCC AAGGAGTTGG AGGCCACTTT ...
    fmf.igh.cnrs.fr/ISSAID/infevers/libPHP/...?n=8

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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