Variant (rsID / SNP)

rs281860303

rs281860303 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGF3. Location: chromosome 11, position 69,631,129. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FGF3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:69631129
Cytoband: 11q13.3
HGVS: NM_005247.4(FGF3):c.283C>T (p.Arg95Trp)
Allele change: Missense_R95W

Associated conditions / phenotypes

Deafness with labyrinthine aplasia, microtia, and microdontia

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.