Variant (rsID / SNP)

rs776587763

rs776587763 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR2. Location: chromosome 10, position 123,279,599. 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: 10:123279599
Cytoband: 10q26.13
HGVS: NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe)
Allele change: Missense_C278F

Associated conditions / phenotypes

Pfeiffer syndrome|FGFR2 related craniosynostosis|Crouzon syndrome

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.