Variant (rsID / SNP)

rs61753344

rs61753344 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FMO3. Location: chromosome 1, position 171,083,232. Clinical significance in the table: Pathogenic.

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Reference-table entries

FMO3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:171083232
Cytoband: 1q24.3
HGVS: NM_001002294.3(FMO3):c.913G>T (p.Glu305Ter)
Allele change: Nonsense_E242X

Associated conditions / phenotypes

Trimethylaminuria

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.