SLC5A1 H615Q - GET-Evidence

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

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SLC5A1 H615Q

(SLC5A1 His615Gln)

You are viewing the latest version of this page, saved on November 29, 2012 at 4:34am by Genome Importing Robot.

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr22:32506050: 5.1% (554/10758) in EVS
  • G @ chr22:30836049: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 5.1% (554/10758)




hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr22:32506050


Added in this revision:

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr22:32506050


hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr22:32506050


GS12004 - var-GS12004-1100-36-ASM
het G @ chr22:30836050


Other external references

  • rs33954001
  • Score: 0 (benign)
    Web search results (4 hits -- see all)
  • SLC5A1 Gene - GeneCards | SC5A1 Protein | SC5A1 Antibody
    The SLC5A1 gene encodes a protein that is involved in. the active ... SLC5A1 Gene in genomic location: bands according to Ensembl, locations according ...
  • UCSF PMT - Assay View
    PMT,UCSF Pharmacogenetics of Membrane Transporters ... PCR Assay for SLC5A1 PCR. Parameters: Method: The gene regions were PCR amplified from 50 ng genomic DNA and surveyed for ...
  • UCSF PMT - Gene View
    PMT,UCSF Pharmacogenetics of Membrane Transporters ... SLC5A1 Resequencing [Your browser is not displaying the SVG image of experimental data in gene context. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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