Variant (rsID / SNP)

rs72549326

rs72549326 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FMO3. Location: chromosome 1, position 171,076,952. 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: 1:171076952
Cytoband: 1q24.3
HGVS: NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu)
Allele change: Missense_P90L

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.