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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Curation:
Currentness:

SLC4A1 E658K

(SLC4A1 Glu658Lys)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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

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

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • 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
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC4A1
    PolyPhen-2
  • 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, ...
    ncbi.nlm.nih.gov/projects/gv/rbc/...&system=diego

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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