Variant (rsID / SNP)
rs199544087
rs199544087 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR3. Location: chromosome 4, position 1,807,488. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FGFR3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:1807488
- Cytoband
- 4p16.3
- HGVS
- NM_000142.5(FGFR3):c.1657G>A (p.Val553Met)
- Allele change
- Missense_V554M
Associated conditions / phenotypes
Myeloproliferative disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.