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     
+/+ 6 c.668G>A - r.(?) p.(Arg223Gln) - pathogenic (recessive) g.171079979G>A g.171110838G>A g.18177G>A - FMO3_000004 Rare variant. 1 Japanese-American proband, compound het with p.Arg492Trp. Severe TMAU. 0/88 control chromosomes. Preti et al. 2002 J. Invest Dermatol 119, 244 - - Germline yes 0/88 chromosomes - 0 - Ornicha Prapapan
+/+ 6 c.668G>A - r.(?) p.(Arg223Gln) - pathogenic (recessive) g.171079979G>A g.171110838G>A - - FMO3_000004 Expected to affect metabolism of drug substrates of FMO3 - - rs2266780 SUMMARY record - - - 0 - Ornicha Prapapan
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