Variant (rsID / SNP)

rs2305180

rs2305180 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGFR3. Location: chromosome 4, position 1,803,236. Clinical significance in the table: Benign.

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Reference-table entries

FGFR3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:1803236
Cytoband: 4p16.3
HGVS: NM_000142.5(FGFR3):c.588C>T (p.Arg196=)
Allele change: Synonymous_R196R

Associated conditions / phenotypes

Connective tissue disorder

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.