Variant (rsID / SNP)

rs121918502

rs121918502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR2. Location: chromosome 10, position 123,276,865. Clinical significance in the table: Pathogenic.

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Reference-table entries

FGFR2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:123276865
Cytoband: 10q26.13
HGVS: NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)
Allele change: Missense_S351C

Associated conditions / phenotypes

Pfeiffer syndrome type 3|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|Pfeiffer syndrome|FGFR2 related craniosynostosis

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.