Full data view for gene FMO3

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 4 c.472G>A - r.(?) p.(Glu158Lys) Unknown - 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 - DNA SEQ - - TMAU ? PubMed: Brunelle 1997, PubMed: Dolphin 1997, PubMed: Treacy 1998, PubMed: Zschocke 1999, PubMed: Park 1999, PubMed: Furnes 2003, PubMed: Poetsch 2010 - - - - - - 0 - - 1 Ornicha Prapapan
+?/? 4 c.472G>A - r.(?) p.(Glu158Lys) Both (homozygous) - likely pathogenic (recessive) g.171076966G>A g.171107825G>A - - FMO3_000008 - PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat3 PubMed: Ferreira 2013 - F - Portugal - - 0 - - 1 Elizabeth A. Shephard
-/- 4 c.472G>A - r.(?) p.Glu158Lys Unknown - NA g.171076966G>A g.171107825G>A - - FMO3_000008 caffeine and clozapine: no effect on metabolism PubMed: Sachse 1999 - rs2266782 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 4 c.472G>A - r.(?) p.Glu158Lys Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/- 4 c.472G>A - r.(?) p.Glu158Lys Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/? 4 c.472G>A - r.(?) p.Glu158Lys Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. 4 c.472G>A - r.(?) p.(Glu158Lys) Maternal (confirmed) - VUS g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 - PubMed: Shimizu 2012 - rs2266782 Germline yes - - 0 - DNA SEQ buccal cells - TMAU 22819296-Pat2 PubMed: Shimizu 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - 0 - - 1 Johan den Dunnen
-/. - c.472G>A - r.(?) p.(Glu158Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.472G>A - r.(?) p.(Glu158Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+?/. 4 c.472G>A - r.(?) p.(Glu158Lys) Both (homozygous) - likely pathogenic (recessive) g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 - PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat16 PubMed: Ferreira 2013 - M - Portugal - - 0 - - 1 Ornicha Prapapan
+?/. 4 c.472G>A - r.(?) p.(Glu158Lys) Both (homozygous) - likely pathogenic (recessive) g.171076966G>A g.171107825G>A - - FMO3_000008 - PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat22 PubMed: Ferreira 2013 - F - Portugal - - 0 - - 1 Elizabeth A. Shephard
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) Unknown - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat2 PubMed: Ferreira 2013 - M - Portugal - - 0 - - 1 Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) Unknown - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat4 PubMed: Ferreira 2013 - M - Portugal - - 0 - - 1 Johan den Dunnen
+?/. 4 c.472G>A - r.(?) p.(Glu158Lys) Unknown - likely pathogenic (recessive) g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat6 PubMed: Ferreira 2013 - M - Portugal - - 0 - - 1 Johan den Dunnen
+?/. 4 c.472G>A - r.(?) p.(Glu158Lys) Unknown - likely pathogenic (recessive) g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat7 PubMed: Ferreira 2013 - F - Portugal - - 0 - - 1 Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) Unknown - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat10 PubMed: Ferreira 2013 - M - Portugal - - 0 - - 1 Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) Both (homozygous) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat11 PubMed: Ferreira 2013 - F - Portugal - - 0 - - 1 Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) Unknown - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat12 PubMed: Ferreira 2013 - F - Portugal - - 0 - - 1 Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) Unknown - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat13 PubMed: Ferreira 2013 - F - Portugal - - 0 - - 1 Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) Unknown - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat15 PubMed: Ferreira 2013 - M - Portugal - - 0 - - 1 Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) Unknown - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat17 PubMed: Ferreira 2013 - F - Portugal - - 0 - - 1 Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) Both (homozygous) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat18 PubMed: Ferreira 2013 - F - Portugal - - 0 - - 1 Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) Both (homozygous) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat19 PubMed: Ferreira 2013 - M - Portugal - - 0 - - 1 Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) Unknown - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat20 PubMed: Ferreira 2013 - M - Portugal - - 0 - - 1 Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) Unknown - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat21 PubMed: Ferreira 2013 - M - Portugal - - 0 - - 1 Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) Both (homozygous) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat23 PubMed: Ferreira 2013 - M - Portugal - - 0 - - 1 Johan den Dunnen
+?/- 4 c.472G>A - r.(?) p.(Glu158Lys) Both (homozygous) - likely pathogenic g.171076966G>A g.171107825G>A Glu158Lys - FMO3_000008 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat24 PubMed: Ferreira 2013 - M - Portugal - - 0 - - 1 Johan den Dunnen
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