SLC35C1 I227V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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SLC35C1 I227V

(SLC35C1 Ile227Val)


You are viewing an old version of this page that was saved on June 23, 2011 at 12:04am by Genome Importing Robot.

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 @ chr11:45832509: 14.3% (1541/10758) in EVS
  • Frequency shown in summary reports: 14.3% (1541/10758)

Publications
 

Genomes
 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr11:45832509

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr11:45832509

 

NA19129

 

snp-18

 

Deleted in this revision:

snp-18

 

Other external references
 

    dbSNP
  • rs7130656
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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