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     
+?/+? 4 c.394G>C - r.(?) p.(Asp132His) - likely pathogenic (recessive) g.171076888G>C g.171107747G>C g.15089G>C - FMO3_000033 Population-specific polymorphic variant: African Americans (7/260 chromosomes), European Americans (0/240 chromosomes). dbSNP: 0/88 Asian chromosomes. Possibly causative of moderate TMAU; homozygotes excreted ~70% of TMA as TMA N-oxide PubMed: Furnes et al. 2003, PubMed: Lattard et al. 2003 - rs12072582 Germline ? - - 0 - Ornicha Prapapan
+?/+? 4 c.394G>C - r.(?) p.Asp132His - NA g.171076888G>C g.171107747G>C - - FMO3_000033 substrate-dependent reduction in activity: 60% for TMA, 30% for methimazole and 6% for 5-DPT PubMed: Cashman 2003 - rs12072582 In vitro (cloned) - - - 0 - Ornicha Prapapan
+?/+? 4 c.394G>C - r.(?) p.(Asp132His) - likely pathogenic (recessive) g.171076888G>C g.171107747G>C - - FMO3_000033 expected to have a moderate substrate-dependent effect on metabolism of drug substrates of FMO3 - - rs12072582 SUMMARY record - - - 0 - Ornicha Prapapan
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