SLC35C1 I227V - 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:

SLC35C1 I227V

(SLC35C1 Ile227Val)


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
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr11:45832509

 

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr11:45832509

 

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

 

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr11:45832509

 

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

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr11:45832509

 

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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