Variant (rsID / SNP)
rs121913485
rs121913485 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR3. Location: chromosome 4, position 1,806,099. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FGFR3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:1806099
- Cytoband
- 4p16.3
- HGVS
- NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)
- Allele change
- Missense_Y373C
Associated conditions / phenotypes
Thanatophoric dysplasia type 1|Carcinoma|Papillary renal cell carcinoma, sporadic|Myeloproliferative disorder|Urinary bladder carcinoma|Transitional cell carcinoma of the bladder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.