Variant (rsID / SNP)
rs121918506
rs121918506 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR2. Location: chromosome 10, position 123,256,215. 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
- 10:123256215
- Cytoband
- 10q26.13
- HGVS
- NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)
- Allele change
- Missense_E563A
Associated conditions / phenotypes
Pfeiffer syndrome|Craniosynostosis 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.