SLC5A1 A411T - GET-Evidence

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

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SLC5A1 A411T

(SLC5A1 Ala411Thr)

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

  • A @ chr22:32487700: 5.2% (555/10758) in EVS
  • A @ chr22:30817699: 1.6% (2/126) in GET-Evidence
  • Frequency shown in summary reports: 5.2% (555/10758)




hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr22:32487700


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr22:32487700


hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr22:32487700


GS12004 - var-GS12004-1100-36-ASM
het A @ chr22:30817700


Other external references

  • rs17683430
  • Score: 0 (benign)
    Web search results (7 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 ...
  • Sodium/glucose cotransporter 1 - Homo sapiens (Human)
    SLC5A1. Synonyms: NAGT, SGLT1. Organism. Homo sapiens (Human) [Complete ... Defects in SLC5A1 are the cause of congenital glucose/galactose malabsorption ...
  • Supplementary Table xls.1
    rs17683011*SLC5A1 NM_000343 NP_000334*N51S@solute carrier family 5 ... rs17683430. rs17684521. rs17685098*R73W. rs17685621*Y747H. rs17686210*OR10S1 XM_166780 ...
  • 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. ...
  • UniProt: P13866
    CC -!- DISEASE: Defects in SLC5A1 are the cause of congenital CC glucose ... GC22P030769; -. DR H-InvDB; HIX0041191; -. DR HGNC; HGNC:11036; SLC5A1. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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