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     
+/+ 2 c.94G>A - r.(?) p.(Glu32Lys) - pathogenic (recessive) g.171061893G>A g.171092752G>A g.94G>A - FMO3_000003 rare variant. Het in 1 individual PubMed: Zhang et al. 2003 - rs72549320 Germline yes 0/98 chromosomes - 0 - Ornicha Prapapan
+/+ 2 c.94G>A - r.(?) p.Glu32Lys - NA g.171061893G>A g.171092752G>A - - FMO3_000003 Variant expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S-oxygenation. PubMed: Zhang 2003 - rs72549320 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 2 c.94G>A - r.(?) p.(Glu32Lys) - NA g.171061893G>A g.171092752G>A - - FMO3_000003 abolishes enzyme activity for TMA and for methimazole and 5-DPT PubMed: Zhang 2003 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
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