All variants in the FMO3 gene

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

27 entries on 1 page. Showing entries 1 - 27.
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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     
-/- 4 c.472G>A - r.(?) p.(Glu158Lys) - benign g.171076966G>A g.171107825G>A g.15167G>A - FMO3_000008 Common polymorphic variant: 0.48 (African),0.42 (European), 0.21 (Asian) (HapMAP). Effect greater when present in cis with p.Glu308Gly. Associated with increased risk of sudden infant death syndrome (SIDS) (Poetsch et al 2010); homozygotes for E158K-E308G in cis can exhibit transient childhood TMAU PubMed: Brunelle et al. 1997, PubMed: Dolphin et al. 1997, PubMed: Treacy et al. 1998, PubMed: Zschocke et al. 1999, PubMed: Park et al. 1999, PubMed: Furnes et al. 2003, PubMed: Poetsch et al. 2010 - rs2266782 Germline no - - 0 - Ornicha Prapapan
+?/? 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic (recessive) g.171076966G>A g.171107825G>A - - FMO3_000008 - PubMed: Ferreira 2013 - - Germline - - - 0 - Elizabeth A. Shephard
-/- 4 c.472G>A - r.(?) p.Glu158Lys - NA g.171076966G>A g.171107825G>A - - FMO3_000008 caffeine and clozapine: no effect on metabolism PubMed: Sachse 1999 - rs2266782 In vitro (cloned) - - - 0 - Ornicha Prapapan
-/- 4 c.472G>A - r.(?) p.Glu158Lys - NA g.171076966G>A g.171107825G>A - - FMO3_000008 Sulindac: patients homozygous for E158K exhibit enhanced polyp regression in response to treatment PubMed: Sachse 1999, PubMed: Hisamuddin 2004, PubMed: Hisamuddin 2005, PubMed: Soderberg 2012 - rs2266782 In vitro (cloned) - - - 0 - Ornicha Prapapan
-/- 4 c.472G>A - r.(?) p.Glu158Lys - NA g.171076966G>A g.171107825G>A - - FMO3_000008 Olanzapine: homozygotes for E158K and E308G have lower N-oxide serum concentrations PubMed: Soderberg 2012 - rs2266782 In vitro (cloned) - - - 0 - Ornicha Prapapan
?/? 4 c.472G>A - r.(?) p.Glu158Lys - NA g.171076966G>A g.171107825G>A - - FMO3_000008 little/moderate substrate-dependent effect, results vary among labs, effect greater when present in cis with p.Glu308Gly: kcat/Km for methimazole reduced 16% (p.Glu158Lys) and 57% (p.Glu158Lys-Glu308Gly) (Allerston 2009). E158K shows 5-fold increased tamoxifen N-oxygenation (Krueger 2006). PubMed: Dolphin 1997, PubMed: Treacy 1998, PubMed: Zschocke 1999 - rs72549321 In vitro (cloned) - - - 0 - Ornicha Prapapan
?/. 4 c.472G>A - r.(?) p.(Glu158Lys) - VUS g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 - PubMed: Shimizu 2012 - rs2266782 Germline yes - - 0 - Ornicha Prapapan
-/. - c.472G>A - r.(?) p.(Glu158Lys) - benign g.171076966G>A g.171107825G>A FMO3(NM_001002294.3):c.472G>A (p.E158K) - FMO3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.472G>A - r.(?) p.(Glu158Lys) - benign g.171076966G>A g.171107825G>A FMO3(NM_001002294.3):c.472G>A (p.E158K) - FMO3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic (recessive) g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 - PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/. 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic (recessive) g.171076966G>A g.171107825G>A - - FMO3_000008 - PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/. 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic (recessive) g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/. 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic (recessive) g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
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