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     
+?/+? 9 c.1462A>G - r.(?) p.(Thr488Ala) - likely pathogenic (recessive) g.171086445A>G g.171117305A>G - - FMO3_000106 - PubMed: Shimizu 2012 - - Germline ? 2/1280 chromosomes - 0 - Ornicha Prapapan
+?/+? 9 c.1462A>G - r.(?) p.Thr488Ala - NA g.171086445A>G g.171117305A>G - - FMO3_000106 cDNA expression cloning in E.coli showes lower Kcat/Km for N-oxygenation of trimethylamine (0.60) and benzydamine (0.61) PubMed: Shimizu 2012 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
+?/+? 9 c.1462A>G - r.(?) p.(Thr488Ala) - likely pathogenic (recessive) g.171086445A>G g.171117305A>G - - FMO3_000106 expected to have moderate effect on N-oxygenation of drug substrates of FMO3 - - - SUMMARY record - - - 0 - Ornicha Prapapan
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