SOST V10I - 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:

SOST V10I

(SOST Val10Ile)


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 @ chr17:41836082: 1.3% (137/10758) in EVS
  • T @ chr17:39191607: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.3% (137/10758)

Publications
 

Genomes
 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr17:41836082

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr17:39191608

 

Other external references
 

    dbSNP
  • rs17882143
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.008 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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