FGF23 T239M - GET-Evidence

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

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FGF23 T239M

(FGF23 Thr239Met)

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 @ chr12:4479549: 10.5% (1128/10758) in EVS
  • A @ chr12:4349809: 13.3% (17/128) in GET-Evidence
  • Frequency shown in summary reports: 10.5% (1128/10758)







hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr12:4479549





huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr12:4479549


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr12:4479549



GS07357 - var-GS07357-1100-36-ASM
het A @ chr12:4349810


GS18501 - var-GS18501-1100-36-ASM
het A @ chr12:4349810


GS18526 - var-GS18526-1100-36-ASM
het A @ chr12:4349810


GS18537 - var-GS18537-1100-36-ASM
het A @ chr12:4349810


GS19020 - var-GS19020-1100-36-ASM
hom A @ chr12:4349810


GS19238 - var-GS19238-1100-36-ASM
het A @ chr12:4349810


GS19239 - var-GS19239-1100-36-ASM
het A @ chr12:4349810


GS19240 - var-GS19240-1100-36-ASM
hom A @ chr12:4349810


GS19669 - var-GS19669-1100-36-ASM
het A @ chr12:4349810


GS19700 - var-GS19700-1100-36-ASM
het A @ chr12:4349810


GS19701 - var-GS19701-1100-36-ASM
het A @ chr12:4349810


GS19735 - var-GS19735-1100-36-ASM
het A @ chr12:4349810




Other external references

  • rs7955866
  • Score: 0 (benign)
    Web search results (5 hits -- see all)
  • FGF23 gene is associated with renal phosphate leak in calcium ...
    In conclusion, our results indicate, for the first time, that there is a genetic link between T239M missense variant of the FGF23 gene and renal ...
  • Fibroblast Growth Factor 23: A New Clinical Marker for ...
    FGF23 was measured in pre- and postoperative serum, and expression of FGF23 mRNA and ... to change threonine to methionine at codon 239 (T239M) in the coding sequence of FGF23. ...
  • CLINICAL CASE SEMINAR Fibroblast Growth Factor 23: A New ...
    dence for the involvement of FGF23 in the pathogenesis of. oncogenic ... 239 (T239M) in the coding sequence of. FGF23. The three exons of FGF23 were amplified ...
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... West Africa 11668637 GLB1 P16278 T239M 239 VAR_026132 CAMK2 (0.762) GM1G1, ...

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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