All variants in the FMO3 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.1164G>A - r.(?) p.(Trp388*) - pathogenic (recessive) g.171083483G>A g.171114343G>A g.21684G>A - FMO3_000026 Rare variant. Truncated protein. Causative of TMAU PubMed: Shimizu 2007 - - Germline yes 0/100 chromosomes - 0 - Ornicha Prapapan
+/+ 7 c.1164G>A - r.(?) p.Trp388* - NA g.171083483G>A g.171114343G>A - - FMO3_000026 abolishes activity for TMA PubMed: Shimizu 2007 - rs72549325 In vitro (cloned) - - - 0 - Ornicha Prapapan
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