Variant (rsID / SNP)
rs4647924
rs4647924 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR3. Location: chromosome 4, position 1,803,571. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
FGFR3Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:1803571
- Cytoband
- 4p16.3
- HGVS
- NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
- Allele change
- Missense_P250R
Associated conditions / phenotypes
Saethre-Chotzen syndrome|Muenke syndrome|Craniosynostosis syndrome|Inborn genetic diseases|7 conditions|14 conditions|Hypochondroplasia|Achondroplasia|Abnormality of the nervous system|FGFR3-related chondrodysplasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.