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.1302G>A - r.(?) p.(Met434Ile) - pathogenic (recessive) g.171086285G>A g.171117145G>A g.24486G>A - FMO3_000024 Rare variant. 1 het proband compound with R492W PubMed: Dolphin et al. 2000 - rs72549332 Germline yes 0/74 chromosomes - 0 - Ornicha Prapapan
+/+ 9 c.1302G>A - r.(?) p.Met434Ile - NA g.171086285G>A g.171117145G>A - - FMO3_000024 abolishes activity for TMA and methimazole PubMed: Dolphin 2000 - rs72549330 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 9 c.1302G>A - r.(?) p.(Met434Ile) - pathogenic (recessive) g.171086285G>A g.171117145G>A - - FMO3_000024 expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S- oxygenation - - rs72549330 SUMMARY record - - - 0 - Ornicha Prapapan
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