Full data view for gene FMO3

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

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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VIP     

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Disease     

ID_report     

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Panel size     

Owner     
+/+ 5 c.613C>T - r.(?) p.(Arg205Cys) Unknown - pathogenic (recessive) g.171077348C>T g.171108207C>T 21265C>T - FMO3_000041 Japanese probands PubMed: Fujieda 2003 - rs28363549 Germline yes 2/27 cases - 0 - DNA SEQ - - TMAU ? PubMed: Fujieda 2003 - - - - - - 0 - - 1 Ornicha Prapapan
+/+ 5 c.613C>T - r.(?) p.Arg205Cys Unknown - NA g.171077348C>T g.171108207C>T - - FMO3_000041 75% reduction in activity for TMA PubMed: Yamazaki 2007 - rs2266782 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 5 c.613C>T - r.(?) p.Arg205Cys Unknown - NA g.171077348C>T g.171108207C>T - - FMO3_000041 reduction in activity of 30-35% for N-oxygenation of TMA and benzydamine and 50-60% for S-oxygenation of sulindac sulfide and methyl p-tolyl sulfide (Shimizu et al 2007) PubMed: Shimizu 2007 - rs2266782 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 5 c.613C>T - r.(?) p.(Arg205Cys) Unknown - pathogenic (recessive) g.171077348C>T g.171108207C>T - - FMO3_000041 Expected to affect metabolism of drug substrates of FMO3 - - rs2266782 SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 5 c.613C>T - r.(?) p.(Arg205Cys) Paternal (confirmed) - pathogenic (recessive) g.171077348C>T g.171108207C>T - - FMO3_000041 - PubMed: Shimizu 2012 - rs28363549 Germline yes - - 0 - DNA SEQ - - TMAU 22819296-Pat1 PubMed: Shimizu 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - 0 - - 1 Ornicha Prapapan
+/+ 5 c.613C>T - r.(?) p.(Arg205Cys) Parent #2 - pathogenic (recessive) g.171077348C>T g.171108207C>T Arg205Cys - FMO3_000041 - PubMed: Shimizu 2012 - rs28363549 Germline yes - - 0 - DNA SEQ buccal cells - TMAU 22819296-Pat4 PubMed: Shimizu 2012 - M - Japan - - 0 - - 1 Johan den Dunnen
-?/-? 5 c.613C>T - r.(?) p.(Arg205Cys) Parent #2 - likely benign g.171077348C>T g.171108207C>T g.21265C>T - FMO3_000041 - PubMed: Yamazaki 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 17584019-PatBfather PubMed: Yamazaki 2007 father M - Japan - - 0 - - 1 Johan den Dunnen
-?/-? 5 c.613C>T - r.(?) p.(Arg205Cys) Parent #2 - likely benign g.171077348C>T g.171108207C>T g.21265C>T - FMO3_000041 - PubMed: Yamazaki 2007 - - Germline no - - 0 - DNA SEQ - - Healthy/Control 17584019-PatBbrother PubMed: Yamazaki 2007 brother M - Japan - - 0 - - 1 Johan den Dunnen
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