Variant (rsID / SNP)

rs193922701

rs193922701 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGF23. Location: chromosome 12, position 4,488,587. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

FGF23Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:4488587
Cytoband: 12p13.32
HGVS: NM_020638.3(FGF23):c.162G>C (p.Gln54His)
Allele change: Missense_Q54H

Associated conditions / phenotypes

Autosomal dominant hypophosphatemic rickets

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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