All variants in the FMO3 gene

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
-/- 6 c.769G>A - r.(?) p.(Val257Met) - benign g.171080080G>A g.171110939G>A g.18281G>A - FMO3_000009 Polymorphic variant: 0.203 (Han Chinese), 0.069 (European), 0.065 (African American). PubMed: Treacy et al. 1998, PubMed: Sachse et al. 1999, PubMed: Dolphin et al. 2000, PubMed: Furnes et al. 2003, PubMed: Hao et al. 2006, PubMed: Koukouritaki et al. 2007 - rs1736557 Germline no - - 0 - Ornicha Prapapan
-/- 6 c.769G>A - r.(?) p.Val257Met - NA g.171080080G>A g.171110939G>A - - FMO3_000009 no effect on metabolism of caffeine or clozapine PubMed: Sachse 1999 - rs1736557 In vitro (cloned) - - - 0 - Ornicha Prapapan
?/? 6 c.769G>A - r.(?) p.Val257Met - NA g.171080080G>A g.171110939G>A - - FMO3_000009 little effect on N-oxygenation of TMA or benzydamine, or S-oxygenation of methimazole; Vmax/Km reduced ~25% for S-oxygenation of sulindac sulfide and methyl p-tolyl sulfide PubMed: Dolphin 2000, PubMed: Teresa 2006 - rs1736557 In vitro (cloned) - - - 0 - Ornicha Prapapan
+?/- 6 c.769G>A - r.(?) p.(Val257Met) - likely pathogenic g.171080080G>A g.171110939G>A Val257Met - FMO3_000009 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 6 c.769G>A - r.(?) p.(Val257Met) - likely pathogenic g.171080080G>A g.171110939G>A Val257Met - FMO3_000009 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
-/. - c.769G>A - r.(?) p.(Val257Met) - benign g.171080080G>A g.171110939G>A - - FMO3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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