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     
+/+ 7 c.1079T>C - r.(?) p.(Leu360Pro) - pathogenic (recessive) g.171083398T>C g.171114258T>C g.21599T>C - FMO3_000043 Low-frequency population-specific polymorphic variant: African Americans (0/258 chromosomes0, European Americans (0/240 chromosomes). Only variant known to increase activity of FMO3. PubMed: Furnes et al. 2003, PubMed: Lattard et al. 2003 - rs28363581 Germline no - - 0 - Ornicha Prapapan
+/+ 7 c.1079T>C - r.(?) p.Leu360Pro - NA g.171083398T>C g.171114258T>C - - FMO3_000043 increased activity for TMA (5-fold), methimazole (3-fold) and 5-DPT (2-fold) via increase in Vmax PubMed: Furnes 2003, PubMed: Lattard 2003 - rs28363581 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 7 c.1079T>C - r.(?) p.(Leu360Pro) - pathogenic (recessive) g.171083398T>C g.171114258T>C - - FMO3_000043 expected to increase rate of metabolism of N- and S-oxygenation of drug substrates of FMO3 - - rs28363581 SUMMARY record - - - 0 - Ornicha Prapapan
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