NLRP8 R690C - 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:

NLRP8 R690C

(NLRP8 Arg690Cys)


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 @ chr19:56473458: 0.9% (94/10758) in EVS
  • TGC @ chr19:61165269: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (94/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het CGC @ chr19:56473458

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het TGC @ chr19:56473458

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het TGC @ chr19:56473458

 

GS18947 - var-GS18947-1100-36-ASM
het TGC @ chr19:61165270

 

GS18956 - var-GS18956-1100-36-ASM
het TGC @ chr19:61165270

 

GS19129 - var-GS19129-1100-36-ASM
het TGC @ chr19:61165270

 

Other external references
 

    dbSNP
  • rs75864168
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs6509975
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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