Gene entry
FGFR3
fibroblast growth factor receptor 3
- Chromosome
- 4
- Cytoband
- 4p16.3
- Variants (rsID)
- 26
FGFR3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4p16.3). Its official name is “fibroblast growth factor receptor 3”. The reference table lists 26 variants (rsID) for this gene.
Clinically classified variants
17 reference-table entries with clinical significance.
- rs2305180Benignsingle nucleotide variantConnective tissue disorder
- rs2305181Benignsingle nucleotide variant
- rs3135868Benignsingle nucleotide variant
- rs3135885Benignsingle nucleotide variantConnective tissue disorder
- rs3135897Benignsingle nucleotide variantConnective tissue disorder
- rs61735104Benignsingle nucleotide variantHypochondroplasia|Connective tissue disorder
- rs121913485Conflicting interpretationssingle nucleotide variantThanatophoric dysplasia type 1|Carcinoma|Papillary renal cell carcinoma, sporadic|Myeloproliferative disorder|Urinary bladder carcinoma|Transitional cell carcinoma of the bladder
- rs199544087Conflicting interpretationssingle nucleotide variantMyeloproliferative disorder
- rs267606808Othersingle nucleotide variantMissense_Q485R
- rs121913115Pathogenicsingle nucleotide variantHypochondroplasia|Short stature
- rs121913479Pathogenicsingle nucleotide variantThanatophoric dysplasia type 1|Epidermal nevus|Urinary bladder carcinoma
- rs121913482Pathogenicsingle nucleotide variantSkeletal dysplasia with acanthosis nigricans|Epidermal nevus|Seborrheic keratosis|Thanatophoric dysplasia type 1|Multiple myeloma|13 conditions|Transitional cell carcinoma of the bladder|Lung adenocarcinoma|Squamous cell lung carcinoma|Carcinoma|Squamous cell carcinoma of the head and neck|14 conditions|Cancer of cervix|Hamartoma|Achondroplasia|FGFR3-related chondrodysplasia|FGFR3-related disorder|Connective tissue disorder
- rs121913483Pathogenicsingle nucleotide variantSeborrheic keratosis|Thanatophoric dysplasia type 1|Cancer of cervix|Malignant tumor of urinary bladder|Papillary renal cell carcinoma, sporadic|Carcinoma|Squamous cell lung carcinoma|Urinary bladder carcinoma|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|14 conditions|Connective tissue disorder
- rs28931615Pathogenicsingle nucleotide variantCrouzon syndrome-acanthosis nigricans syndrome|Craniosynostosis syndrome|Carcinoma|Inborn genetic diseases
- rs4647924Pathogenicsingle nucleotide variantSaethre-Chotzen syndrome|Muenke syndrome|Craniosynostosis syndrome|Inborn genetic diseases|7 conditions|14 conditions|Hypochondroplasia|Achondroplasia|Abnormality of the nervous system|FGFR3-related chondrodysplasia
- rs78311289Pathogenicsingle nucleotide variantMultiple myeloma|Spermatocytic seminoma|Thanatophoric dysplasia, type 2|Carcinoma
- rs267606809Uncertain significancesingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.