Variant (rsID / SNP)
rs61735104
rs61735104 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR3. Location: chromosome 4, position 1,806,629. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
FGFR3Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:1806629
- Cytoband
- 4p16.3
- HGVS
- NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser)
- Allele change
- Missense_P450S
Associated conditions / phenotypes
Hypochondroplasia|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.