Variant (rsID / SNP)

rs121917703

rs121917703 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGF3. Location: chromosome 11, position 69,625,327. Clinical significance in the table: Pathogenic.

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Reference-table entries

FGF3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:69625327
Cytoband: 11q13.3
HGVS: NM_005247.4(FGF3):c.466T>C (p.Ser156Pro)
Allele change: Missense_S156P

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.