LRRC16B G1161V - 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:

LRRC16B G1161V

(LRRC16B Gly1161Val)


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 @ chr14:24534916: 4.6% (499/10758) in EVS
  • T @ chr14:23604755: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 4.6% (499/10758)

Publications
 

Genomes
 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr14:24534916

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr14:24534916

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr14:24534916

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr14:23604756

 

Other external references
 

    dbSNP
  • rs79328356
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.975 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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