All variants in the FMO3 gene

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

9 entries on 1 page. Showing entries 1 - 9.
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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.1498C>T - r.(?) p.(Arg500*) - pathogenic (recessive) g.171086481C>T g.171117341C>T g.24682C>T - FMO3_000016 - PubMed: Shimizu 2006 - - Germline yes - - 0 - Ornicha Prapapan
+/+ 9 c.1498C>T - r.(?) p.Arg500* - NA g.171086481C>T g.171117341C>T - - FMO3_000016 abolishes activity for TMA and 5-DPT PubMed: Yamazaki 2007 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 9 c.1498C>T - r.(?) p.(Arg500*) - pathogenic (recessive) g.171086481C>T g.171117341C>T - - FMO3_000016 expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation - - - SUMMARY record - - - 0 - Ornicha Prapapan
+/+ 9 c.1498C>T - r.(?) p.(Arg500*) - pathogenic (recessive) g.171086481C>T g.171117341C>T Arg500stop - FMO3_000016 - PubMed: Shimizu 2012 - - Germline yes - - 0 - Ornicha Prapapan
+/+ 9 c.1498C>T - r.(?) p.(Arg500*) - pathogenic (recessive) g.171086481C>T g.171117341C>T g.30398 C>T - FMO3_000016 - PubMed: Yamazaki 2007 - - Germline yes - - 0 - Ornicha Prapapan
+/+ 9 c.1498C>T - r.(?) p.(Arg500*) - pathogenic (recessive) g.171086481C>T g.171117341C>T g.30398C>T - FMO3_000016 - PubMed: Yamazaki 2007 - - Germline yes - - 0 - Ornicha Prapapan
+/+ 9 c.1498C>T - r.(?) p.(Arg500*) - pathogenic (recessive) g.171086481C>T g.171117341C>T g.30398C>T - FMO3_000016 - PubMed: Yamazaki 2007 - - Germline - - - 0 - Ornicha Prapapan
+/+ 9 c.1498C>T - r.(?) p.(Arg500*) - pathogenic (recessive) g.171086481C>T g.171117341C>T g.30398C>T - FMO3_000016 - PubMed: Yamazaki 2007 - - Germline - - - 0 - Ornicha Prapapan
+/+ 9 c.1498C>T - r.(?) p.Arg500* - NA g.171086481C>T g.171117341C>T - - FMO3_000016 cDNA expression cloning in E.coli shows no N-oxygenation activity PubMed: Yamazaki 2007 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
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