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.778A>G - r.(?) p.(Met260Val) - pathogenic (recessive) g.171080089A>G g.171110948A>G g.18290A>G - FMO3_000031 Rare variant. 2/328 Japanese chromosomes. Occurs in cis with p.Val257Met, compound het with p.Arg500* PubMed: Shimizu et al. 2006 - - Germline yes - - 0 - Ornicha Prapapan
+/+ 6 c.778A>G - r.(?) p.Met260Val - NA g.171080089A>G g.171110948A>G - - FMO3_000031 Vmax/Km reduced by >90% for TMA, benzydamine, sulindac sulfide and methyl p-tolyl sulfide PubMed: Shimizu 2006 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 6 c.778A>G - r.(?) p.(Met260Val) - pathogenic (recessive) g.171080089A>G g.171110948A>G - - FMO3_000031 expected to affect N-oxygenation and S-oxygenation of drug substrates of FMO3 - - - SUMMARY record - - - 0 - Ornicha Prapapan
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