Full data view for gene FMO3

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     

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Allele     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

VIP     

Methylation     

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Technique     

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Disease     

ID_report     

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Owner     
+/+ 2 c.94G>A - r.(?) p.(Glu32Lys) Unknown - 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 - DNA SEQ - - TMAU ? PubMed: Zhang 2003 - - - - - - 0 - - 1 Ornicha Prapapan
+/+ 2 c.94G>A - r.(?) p.Glu32Lys Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.94G>A - r.(?) p.(Glu32Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
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