Variant (rsID / SNP)
rs121918497
rs121918497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR2. Location: chromosome 10, position 123,279,566. Clinical significance in the table: Pathogenic.
Reference-table entries
FGFR2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:123279566
- Cytoband
- 10q26.13
- HGVS
- NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)
- Allele change
- Missense_Q289P
Associated conditions / phenotypes
Jackson-Weiss syndrome|Crouzon syndrome|Pfeiffer syndrome|FGFR2 related craniosynostosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.