Variant (rsID / SNP)
rs121913483
rs121913483 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR3. Location: chromosome 4, position 1,803,568. Clinical significance in the table: Pathogenic.
Reference-table entries
FGFR3Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:1803568
- Cytoband
- 4p16.3
- HGVS
- NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)
- Allele change
- Missense_S249C
Associated conditions / phenotypes
Seborrheic 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.