Variant (rsID / SNP)
rs121913478
rs121913478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR2. Location: chromosome 10, position 123,274,794. 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
- 10:123274794
- Cytoband
- 10q26.13
- HGVS
- NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)
- Allele change
- Missense_Y375C
Associated conditions / phenotypes
Beare-Stevenson cutis gyrata syndrome|Endometrial carcinoma|Endometrial neoplasm|FGFR2 related craniosynostosis|11 conditions
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.