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     
+/+ 3 c.192del - r.(?) p.(Glu65Argfs*2) - pathogenic (recessive) g.171072985del g.171103844del A191 deletion; g.11185delA - FMO3_000036 Also known as M66X and K64Rfs. Truncated protein. Rare variant, 1 individual, compound het with P153L PubMed: Zhang et al. 2003 - - Germline yes 0/174 Chromosomes - 0 - Ornicha Prapapan
+/+ 3 c.192del - r.(?) p.(Glu65Argfs*2) - pathogenic (recessive) g.171072985del g.171103844del - - FMO3_000036 Expected to affect metabolism of drug substrates of FMO3 - - - SUMMARY record - - - 0 - Ornicha Prapapan
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