All variants in the FMO3 gene

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     

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     
+/+ 5 c.613C>T - r.(?) p.(Arg205Cys) - pathogenic (recessive) g.171077348C>T g.171108207C>T 21265C>T - FMO3_000041 Japanese probands PubMed: Fujieda 2003 - rs28363549 Germline yes 2/27 cases - 0 - Ornicha Prapapan
+/+ 5 c.613C>T - r.(?) p.Arg205Cys - NA g.171077348C>T g.171108207C>T - - FMO3_000041 75% reduction in activity for TMA PubMed: Yamazaki 2007 - rs2266782 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 5 c.613C>T - r.(?) p.Arg205Cys - 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 - Ornicha Prapapan
+/+ 5 c.613C>T - r.(?) p.(Arg205Cys) - pathogenic (recessive) g.171077348C>T g.171108207C>T - - FMO3_000041 Expected to affect metabolism of drug substrates of FMO3 - - rs2266782 SUMMARY record - - - 0 - Ornicha Prapapan
+/+ 5 c.613C>T - r.(?) p.(Arg205Cys) - pathogenic (recessive) g.171077348C>T g.171108207C>T - - FMO3_000041 - PubMed: Shimizu 2012 - rs28363549 Germline yes - - 0 - Ornicha Prapapan
+/+ 5 c.613C>T - r.(?) p.(Arg205Cys) - pathogenic (recessive) g.171077348C>T g.171108207C>T Arg205Cys - FMO3_000041 - PubMed: Shimizu 2012 - rs28363549 Germline yes - - 0 - Ornicha Prapapan
-?/-? 5 c.613C>T - r.(?) p.(Arg205Cys) - likely benign g.171077348C>T g.171108207C>T g.21265C>T - FMO3_000041 - PubMed: Yamazaki 2007 - - Germline - - - 0 - Ornicha Prapapan
-?/-? 5 c.613C>T - r.(?) p.(Arg205Cys) - likely benign g.171077348C>T g.171108207C>T g.21265C>T - FMO3_000041 - PubMed: Yamazaki 2007 - - Germline no - - 0 - Ornicha Prapapan
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