SLC4A1 E658K - 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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SLC4A1 E658K

(SLC4A1 Glu658Lys)

Short summary


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


Insufficiently evaluated pathogenic

(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

  • T @ chr17:42331949: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)



Other external references

  • GeneTests records for the SLC4A1 gene
    Renal Tubular Acidosis, Distal, Autosomal Recessive
    Hemolytic Anemia due to Band 3 Montefiore
    Renal Tubular Acidosis, Distal, Autosomal Dominant
  • Score: 0.016 (benign)
    Web search results (1 hit -- see all)
  • dbRBC - Blood Group Antigen Gene Mutation Database
    HLA, MHC, Human Leukocyte antigen, Major Histocompatibility Complex, database, Allele, Sequence, Antropology, Disease Association, HCT, Hematopoetic Stem Cell, ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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