Variant (rsID / SNP)
rs121918487
rs121918487 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR2. Location: chromosome 10, position 123,276,892. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
FGFR2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:123276892
- Cytoband
- 10q26.13
- HGVS
- NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)
- Allele change
- Missense_C342Y
Associated conditions / phenotypes
Crouzon syndrome|Pfeiffer syndrome|FGFR2 related craniosynostosis|11 conditions|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|Craniosynostosis syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.