Variant (rsID / SNP)
rs121913482
rs121913482 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR3. Location: chromosome 4, position 1,803,564. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:1803564
- Cytoband
- 4p16.3
- HGVS
- NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
- Allele change
- Missense_R248C
Associated conditions / phenotypes
Skeletal 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.