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.1184del - r.(?) p.(Gly395Glufs*11) - pathogenic (recessive) g.171085348del g.171116208del c.1182delG; g.21702delG; M405fsX - FMO3_000038 Truncated protein. 1 Italian pro band, compound het with p.Pro153Leu. PubMed: Teresa et al. 2006 - - Germline yes - - 0 - Ornicha Prapapan
+/+ 7 c.1184del - r.(?) p.(Gly395Glufs*11) - pathogenic (recessive) g.171085348del g.171116208del - - FMO3_000038 Expected to affect metabolism of drug substrates of FMO3 - - rs61757397 SUMMARY record - - - 0 - Ornicha Prapapan
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