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     
+/+ 8 c.1247_1248delinsT - r.(?) p.(Lys416Ilefs*72) - pathogenic (recessive) g.171085411_171085412delinsT g.171116271_171116272delinsT g.23612-23613AG>T; c.AG1246T - FMO3_000090 Del/ins resulting in a frameshift after codon 415, with the following 71 amino acids (residues 416-486) being different and a stop codon at position 487. One northern-European proband, het, in cis with the polymorphic variant p.Val257Met. PubMed: Motika et al. 2009 - - Germline yes - - 0 - Ian Phillips
+/+ 8 c.1247_1248delinsT - r.(?) p.(Lys416Ilefs*72) - pathogenic (recessive) g.171085411_171085412delinsT g.171116271_171116272delinsT - - FMO3_000090 Expected to affect metabolism of drug substrates of FMO3 - - rs144935285 SUMMARY record - - - 0 - Ornicha Prapapan
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