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     
+/+ 6 c.713G>A - r.(?) p.(Arg238Gln) - pathogenic (recessive) g.171080024G>A g.171110883G>A g.18225G>A - FMO3_000044 Rare variant. 1 adult homozygous who exhibited TMAU symptoms and 1 het child in Norwegian family. 1 additional adult (European) homozygote. PubMed: Mayatepek et al. 2004, PubMed: Allerston et al. 2009 - - Germline yes - - 0 - Ornicha Prapapan
+/+ 6 c.713G>A - r.(?) p.Arg238Gln - NA g.171080024G>A g.171110883G>A - - FMO3_000044 impaired benzydamine N-oxygenation in homozygotes PubMed: Mayatepek 2004 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 6 c.713G>A - r.(?) p.Arg238Gln - NA g.171080024G>A g.171110883G>A - - FMO3_000044 abolished activity PubMed: Mayatepek 2004, PubMed: Allerston 2009 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
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