All variants in the FMO3 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/+ 9 c.1474C>T - r.(?) p.(Arg492Trp) - pathogenic (recessive) g.171086457C>T g.171117317C>T g.24658C>T - FMO3_000011 Rare variant. 3 probands (1 French-Canadian, compound with P153L, 1 Australian of Irish descent, compound with M66I and 1 British compound with M434I) PubMed: Akerman et al. 1999, PubMed: Akerman et al. 1999, PubMed: Dolphin et al. 2000 - rs72549334 Germline yes 0/394 chromosomes - 0 - Ornicha Prapapan
+/+ 9 c.1474C>T - r.(?) p.Arg492Trp - NA g.171086457C>T g.171117317C>T - - FMO3_000011 abolishes activity for TMA and methimazole PubMed: Akerman 1999, PubMed: Akerman 1999, PubMed: Dolphin 2000 - rs72549334 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 9 c.1474C>T - r.(?) p.(Arg492Trp) - pathogenic (recessive) g.171086457C>T g.171117317C>T - - FMO3_000011 expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S- oxygenation - - rs72549334 SUMMARY record - - - 0 - Ornicha Prapapan
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