All variants in the FMO3 gene

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

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

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     
+/+ 3 c.209C>T - r.(?) p.(Pro70Leu) - pathogenic (recessive) g.171073002C>T g.171103861C>T g.16919C>T - FMO3_000014 - PubMed: Shimizu 2012 - - Germline yes 2/1280 chromosomes - 0 - Ornicha Prapapan
+/+ 3 c.209C>T - r.(?) p.Pro70Leu - NA g.171073002C>T g.171103861C>T - - FMO3_000014 cDNA expression cloning in E.coli showes lower Kcat/Km for N-oxygenation of trimethylamine (0.55) and benzydamine (0.46) PubMed: Shimizu 2012 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 3 c.209C>T - r.(?) p.(Pro70Leu) - pathogenic (recessive) g.171073002C>T g.171103861C>T - - FMO3_000014 expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation - - - SUMMARY record - - - 0 - Ornicha Prapapan
+/+ 3 c.209C>T - r.(?) p.(Pro70Leu) - pathogenic (recessive) g.171073002C>T g.171103861C>T g.16919C>T - FMO3_000014 - PubMed: Shimizu 2012 - - Germline yes 2/1280 chromosomes - 0 - Ornicha Prapapan
+/. 3 c.209C>T - r.(?) p.(Pro70Leu) - pathogenic (recessive) g.171073002C>T g.171103861C>T - - FMO3_000014 - PubMed: Fujieda 2003 - - Germline - - - 0 - Johan den Dunnen
Legend   How to query