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Variant (rsID / SNP)

rs104894342

FGF23

rs104894342 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGF23. Location: chromosome 12, position 4,488,538. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FGF23Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:4488538
Cytoband
12p13.32
HGVS
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly)
Allele change
Missense_S71G

Associated conditions / phenotypes

Tumoral calcinosis, hyperphosphatemic, familial, 1|Tumoral calcinosis, hyperphosphatemic, familial, 2|Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.