All variants in the FMO3 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/+ 7 c.913G>T - r.(?) p.(Glu305*) - pathogenic (recessive) g.171083232G>T g.171114092G>T g.21429G>T - FMO3_000010 Rare variant. Also known as E305X. 1 homozygous and 5 hets compound with P153L. All of English or Irish origin. PubMed: Treacy et al. 1998,PubMed: Akerman et al. 1999 - rs61753344 Germline yes 1/320 chromosomes - 0 - Ornicha Prapapan
+/+ 7 c.913G>T - r.(?) p.Glu305* - NA g.171083232G>T g.171114092G>T - - FMO3_000010 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 P153L PubMed: Mayatepek 2004 - rs61753344 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 7 c.913G>T - r.(?) p.Glu305* - NA g.171083232G>T g.171114092G>T - - FMO3_000010 abolishes activity PubMed: Treacy 1998, PubMed: Akerman 1999 - rs61753344 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/. - c.913G>T - r.(?) p.(Glu305Ter) - pathogenic g.171083232G>T g.171114092G>T - - FMO3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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