All variants in the FMO3 gene

Information The variants shown are described using the NM_001002294.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 3 c.183C>A - r.(?) p.(Asn61Lys) - pathogenic (recessive) g.171072976C>A g.171103835C>A g.11177C>A - FMO3_000035 Low-frequency polymorphic variant (0.052 in white, 0.035 in African-Americans) that severely reduces activity. Expected to cause TMAU, but not reported in patients. PubMed: Koukouritaki et al. 2005, PubMed: Koukouritaki et al. 2007 - - Germline ? see Remarks - 0 - Ornicha Prapapan
+/+ 3 c.183C>A - r.(?) p.Asn61Lys - NA g.171072976C>A g.171103835C>A - - FMO3_000035 bbolishes activity for TMA and ethylenethiourea, severely reduces activity for methimazole and sulindac PubMed: Koukouritaki 2005, PubMed: Koukouritaki 2007 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 3 c.183C>A - r.(?) p.(Asn61Lys) - pathogenic (recessive) g.171072976C>A g.171103835C>A - - FMO3_000035 expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S- oxygenation - - - SUMMARY record - - - 0 - Ornicha Prapapan
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