NLRP12 F402L - 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:

(See the latest version)

NLRP12 F402L

(NLRP12 Phe402Leu)


You are viewing an old version of this page that was saved on October 6, 2016 at 4:12pm by Alana Lynch.

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 @ chr19:54313709: 0.0% (2/10758) in EVS
  • C @ chr19:59005518: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.0% (2/10758)

Publications
 

Added in this revision:

De Pieri C, Vuch J, Athanasakis E, Severini GM, Crovella S, Bianco AM, Tommasini A. F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls. Clin Exp Rheumatol. 2014 Nov-Dec;32(6):993-4. Epub 2014 Oct 20. PubMed PMID: 25327218.

 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr19:54313707

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr19:54313707

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr19:54313707

 

Other external references
 

    dbSNP
  • rs34971363
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.996 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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