All variants in the FMO3 gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/+ 4 c.458C>T - r.(?) p.(Pro153Leu) - pathogenic (recessive) g.171076952C>T g.171107811C>T g.15153C>T - FMO3_000001 Rare variant. 14 probands of European origin PubMed: Dolphin et al. 1997, PubMed: Treacy et al. 1998 - rs72549326 Germline yes 0/60 chromosomes - 0 - Ornicha Prapapan
+/+ 4 c.458C>T - r.(?) p.Pro153Leu - NA g.171076952C>T g.171107811C>T - - FMO3_000001 variant expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S-oxygenation; impaired benzydamine N-oxygenation in compound het with E305X or with S173R PubMed: Mayatepek 2004 - rs72549326 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 4 c.458C>T - r.(?) p.Pro153Leu - NA g.171076952C>T g.171107811C>T - - FMO3_000001 abolishes activity for TMA and methimazole PubMed: Treacy 1998, PubMed: Dolphin 1997 - rs72549326 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 4 c.458C>T - r.(?) p.(Pro153Leu) - pathogenic (recessive) g.171076952C>T g.171107811C>T Pro153Leu - FMO3_000001 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+/+ 4 c.458C>T - r.(?) p.(Pro153Leu) - pathogenic (recessive) g.171076952C>T g.171107811C>T Pro153Leu - FMO3_000001 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
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