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     
+/+ 5 c.517A>C - r.(?) p.(Ser173Arg) - pathogenic (recessive) g.171077252A>C g.171108111A>C S173R - FMO3_000102 One proband, compound het with P153L. DNA change was not reported so could be c.517A>C or c.519C>G. PubMed: Mayatepek et al. 2004 - - Germline ? - - 0 - Elizabeth A. Shephard
+/+ 5 c.517A>C - r.(?) p.Ser173Arg - NA g.171077252A>C g.171108111A>C - - FMO3_000102 impaired benzydamine N-oxygenation in compound het with P153L PubMed: Mayatepek 2004 - - In vitro (cloned) - - - 0 - Elizabeth A. Shephard
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