Variant (rsID / SNP)

rs267606808

rs267606808 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR3. Location: chromosome 4, position 1,807,123. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

FGFR3Other

Clinical significance (as recorded): no interpretation for the single variant
Variant type: single nucleotide variant
Chromosome / position: 4:1807123
Cytoband: 4p16.3
HGVS: NM_000142.5(FGFR3):c.1454A>G (p.Gln485Arg)
Allele change: Missense_Q486R

Associated conditions / phenotypes

Missense_Q485R

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.