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     
+/+ 3 c.182A>G - r.(?) p.(Asn61Ser) - pathogenic (recessive) g.171072975A>G g.171103834A>G g.11177A>G - FMO3_000002 Rare variant. 2 patients compound hets with P153L PubMed: Dolphin et al. 2000 - rs72549322 Germline yes 0/118 chromosomes - 0 - Ornicha Prapapan
+/+ 3 c.182A>G - r.(?) p.Asn61Ser - NA g.171072975A>G g.171103834A>G - - FMO3_000002 abolishes N-oxygenation of TMA, but no effect on S-oxygenation of methimazole PubMed: Dolphin 2000 - rs72549331 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 3 c.182A>G - r.(?) p.(Asn61Ser) - pathogenic (recessive) g.171072975A>G g.171103834A>G - - FMO3_000002 expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation, but not those that undergo S-oxygenation - - rs72549331 SUMMARY record - - - 0 - Ornicha Prapapan
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