All variants in the FMO3 gene

Information The variants shown are described using the NM_001002294.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.584C>T - r.(?) p.(Ser195Leu) - pathogenic (recessive) g.171077319C>T g.171108178C>T - - FMO3_000017 - PubMed: Park 1999 - - Germline yes 1/140 chromosomes - 0 - Ornicha Prapapan
+/+ 5 c.584C>T - r.(?) p.Ser195Leu - NA g.171077319C>T g.171108178C>T - - FMO3_000017 cDNA expression cloning in E.coli showes lower Kcat/Km for N-oxygenation of trimethylamine (0.06) and benzydamine (0.09) PubMed: Shimizu 2012 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 5 c.584C>T - r.(?) p.(Ser195Leu) - pathogenic (recessive) g.171077319C>T g.171108178C>T - - FMO3_000017 Expected to affect N-oxygenation of drug substrates of FMO3 - - - SUMMARY record - - - 0 - Ornicha Prapapan
+/+ 5 c.584C>T - r.(?) p.(Ser195Leu) - pathogenic (recessive) g.171077319C>T g.171108178C>T g.21236C>T - FMO3_000017 - PubMed: Shimizu 2012 - - Germline yes 1/1280 chromosomes - 0 - Ornicha Prapapan
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