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.539G>T - r.(?) p.(Gly180Val) - benign g.171077274G>T g.171108133G>T g.15475G>T - FMO3_000042 Polymorphic variant (0.08 in Europeans). PubMed: Dolphin et al. 2000, PubMed: Teresa et al. 2006 - rs75904274 Germline no 2/24 caucasian - 0 - Ornicha Prapapan
-/- 5 c.539G>T - r.(?) p.Gly180Val - NA g.171077274G>T g.171108133G>T - - FMO3_000042 no effect on N-oxygenation of TMA or S-oxygenation of methimazole PubMed: Dolphin 2000 - rs75904274 In vitro (cloned) - - - 0 - Ornicha Prapapan
+?/- 5 c.539G>T - r.(?) p.(Gly180Val) - likely pathogenic g.171077274G>T g.171108133G>T Glu180Val - FMO3_000042 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
+?/- 5 c.539G>T - r.(?) p.(Gly180Val) - likely pathogenic g.171077274G>T g.171108133G>T Glu180Val - FMO3_000042 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen
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