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     
-/- 8 c.1248G>T - r.(?) p.(Lys416Asn) - benign g.171085412G>T g.171116272G>T g.23613G>T - FMO3_000032 Rare variant: 1/400 chromosomes (non-Latino white American), 0/404 chromosomes (Hispanic American), 0/402 chromosomes (African American) PubMed: Koukouritaki et al. 2005, PubMed: Koukouritaki et al. 2007 - - Germline no - - 0 - Ornicha Prapapan
-?/-? 8 c.1248G>T - r.(?) p.Lys416Asn - NA g.171085412G>T g.171116272G>T - - FMO3_000032 Little or no effect. Substrate-dependent: mcat/Km increased 40% for N-oxygenation of TMA, reduced for S-oxygenation of methimazole (by 40%) and of ethylenethiourea (by 15%); no effect on S-oxygenation of sulindac sulfide. PubMed: Koukouritaki 2005, PubMed: Koukouritaki 2007 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
-?/-? 8 c.1248G>T - r.(?) p.(Lys416Asn) - likely benign g.171085412G>T g.171116272G>T - - FMO3_000032 possible limited substrate-dependent effect on metabolism of drug substrates of FMO3 - - - SUMMARY record - - - 0 - Ornicha Prapapan
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