Variant (rsID / SNP)
rs121918491
rs121918491 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR2. Location: chromosome 10, position 123,276,885. Clinical significance in the table: Pathogenic.
Reference-table entries
FGFR2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:123276885
- Cytoband
- 10q26.13
- HGVS
- NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)
- Allele change
- Synonymous_A344A
Associated conditions / phenotypes
Crouzon syndrome|Craniosynostosis, nonclassifiable autosomal dominant|Scaphocephaly and axenfeld-rieger anomaly|Craniosynostosis syndrome|FGFR2 related craniosynostosis|11 conditions|FGFR2-related disorder|Acrocephalosyndactyly type I|Pfeiffer syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.