SGSH V361I - 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:

SGSH V361I

(SGSH Val361Ile)


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 @ chr17:78184679: 8.1% (868/10758) in EVS
  • T @ chr17:75799273: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 8.1% (868/10758)

Publications
 

Genomes
 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr17:78184679

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr17:78184679

 

huE80E3D

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr17:75799274

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr17:75799274

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr17:75799274

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr17:75799274

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr17:75799274

 

Other external references
 

    dbSNP
  • rs9894254
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.049 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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