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     
+/+ _1_2i c.-421_133-993del - r.? p.? - pathogenic (recessive) g.171059708_171071933del g.171090567_171102792del g.-2092 to 10145del - FMO3_000091 12226-bp deletion including exons 1 and 2 and the translational start codon. One homozygous proband of Greek ancestry. PubMed: Forrest et al. 2006 - - Germline yes - - 0 - Ian Phillips
+/+ _1_2i c.-421_133-993del - r.(?) p.? - pathogenic (recessive) g.171059708_171071933del g.171090567_171102792del - - FMO3_000091 Expected to affect metabolism of drug substrates of FMO3 - - - SUMMARY record - - - 0 - Ian Phillips
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