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     
+/+ 5 c.602C>A - r.(?) p.(Thr201Lys) - pathogenic (recessive) g.171077337C>A g.171108196C>A g.15539C>A - FMO3_000088 One Japanese proband. Occurs in cis with p.Glu158Lys and p.Glu308Gly, compound het with p.Arg205Cys PubMed: Shimizu et al. 2006 - - Germline yes 0/70 chromosomes - 0 - Ornicha Prapapan
+/+ 5 c.602C>A - r.(?) p.Thr201Lys - NA g.171077337C>A g.171108196C>A - - FMO3_000088 severe reduction (~90%) reduction of activity for TMA, benzydamine, methyl p-tolyl sulfide and sulindac sulfide PubMed: Shimizu 2006 - rs72549324 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 5 c.602C>A - r.(?) p.(Thr201Lys) - pathogenic (recessive) g.171077337C>A g.171108196C>A - - FMO3_000088 Expected to affect metabolism of drug substrates of FMO3 - - rs72549324 SUMMARY record - - - 0 - Ornicha Prapapan
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