All variants in the FMO3 gene

Information The variants shown are described using the NM_001002294.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.591_592del - r.(?) p.(Cys197*) - pathogenic (recessive) g.171077326_171077327del g.171108185_171108186del Cys197stop - FMO3_000037 - PubMed: Shimizu 2012 - - Germline yes - - 0 - Ornicha Prapapan
+/+ 5 c.591_592del - r.(?) p.(Cys197*) - pathogenic (recessive) g.171077326_171077327del g.171108185_171108186del Cys197stop - FMO3_000037 - PubMed: Shimizu 2012 - rs3832024 Germline yes - - 0 - Ornicha Prapapan
+/+ 5 c.591_592del - r.(?) p.(Cys197*) - pathogenic (recessive) g.171077326_171077327del g.171108185_171108186del g.21243_21244TGdel - FMO3_000037 - PubMed: Yamazaki 2007 - - Germline yes - - 0 - Ornicha Prapapan
+/+ 5 c.591_592del - r.(?) p.(Cys197*) - pathogenic (recessive) g.171077326_171077327del g.171108185_171108186del g.21243_21244TGdel - FMO3_000037 - PubMed: Yamazaki 2007 - - Germline - - - 0 - Ornicha Prapapan
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