All variants in the FMO3 gene

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

12 entries on 1 page. Showing entries 1 - 12.
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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     
-/- 7 c.923A>G - r.(?) p.(Glu308Gly) - benign g.171083242A>G g.171114102A>G g.21443A>G - FMO3_000083 Polymorphic variant: 0.217 (European), 0.181 (Asian), but rare in Africans (0.014) (HapMap). Arose on 158Lys background and usually linked in cis with p.Glu158Lys. Effect greater when present in cis with p.Glu158Lys; homozygotes for E158K-E308G in cis can exhibit transient childhood TMAU PubMed: Treacy et al. 1998, PubMed: Zschocke et al. 1999, PubMed: Park et al. 1999 - rs2266780 Germline - - - 0 - Ornicha Prapapan
-/- 7 c.923A>G - r.(?) p.Glu308Gly - NA g.171083242A>G g.171114102A>G - - FMO3_000083 caffeine and clozapine: no effect on metabolism PubMed: Sachse 1999 - rs2266780 In vitro (cloned) - - - 0 - Ornicha Prapapan
-/- 7 c.923A>G - r.(?) p.Glu308Gly - NA g.171083242A>G g.171114102A>G - - FMO3_000083 Sulindac: patients homozygous for E308G exhibit enhanced polyp regression in response to treatment PubMed: Sachse 1999, PubMed: Hisamuddin 2004, PubMed: Hisamuddin 2005, PubMed: Soderberg 2012 - rs2266780 In vitro (cloned) - - - 0 - Ornicha Prapapan
-/- 7 c.923A>G - r.(?) p.Glu308Gly - NA g.171083242A>G g.171114102A>G - - FMO3_000083 Olanzapine: homozygotes for E308G and E158K have lower N-oxide serum concentrations PubMed: Soderberg 2012 - rs2266780 In vitro (cloned) - - - 0 - Ornicha Prapapan
?/? 7 c.923A>G - r.(?) p.Glu308Gly - NA g.171083242A>G g.171114102A>G - - FMO3_000083 little/moderate substrate-dependent effec, results vary among lab, effect greater when present in cis with p.Glu158Lys: Kcat/Km for methimazole reduced 18% (p.Glu308Gly) and 57% (p.Glu158Lys-Glu308Gly) (Allerston 2009). PubMed: Zschocke 1999 - rs3832024 In vitro (cloned) - - - 0 - Ornicha Prapapan
?/. 7 c.923A>G - r.(?) p.(Glu308Gly) - VUS g.171083242A>G g.171114102A>G Glu308Gly - FMO3_000083 - PubMed: Shimizu 2012 - rs2266780 Germline yes - - 0 - Ornicha Prapapan
?/. - c.923A>G - r.(?) p.(Glu308Gly) - VUS g.171083242A>G g.171114102A>G - - FMO3_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 7 c.923A>G - r.(?) p.(Glu308Gly) - VUS g.171083242A>G g.171114102A>G - - FMO3_000083 - PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 7 c.923A>G - r.(?) p.(Glu308Gly) - likely pathogenic g.171083242A>G g.171114102A>G Glu308Gly - FMO3_000083 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 7 c.923A>G - r.(?) p.(Glu308Gly) - likely pathogenic g.171083242A>G g.171114102A>G Glu308Gly - FMO3_000083 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 7 c.923A>G - r.(?) p.(Glu308Gly) - likely pathogenic g.171083242A>G g.171114102A>G Glu308Gly - FMO3_000083 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 7 c.923A>G - r.(?) p.(Glu308Gly) - likely pathogenic g.171083242A>G g.171114102A>G Glu308Gly - FMO3_000083 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
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