All variants in the FMO3 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.198G>T - r.(?) p.(Met66Ile) - pathogenic (recessive) g.171072991G>T g.171103850G>T g.11192G>T - FMO3_000012 Rare variant. 2 probands of Irish origin. PubMed: Akerman et al. 1999, PubMed: Treacy et al. 1998 - rs72549323 Germline yes 0/360 - 0 - Ornicha Prapapan
+/+ 3 c.198G>T - r.(?) p.Met66Ile - NA g.171072991G>T g.171103850G>T - - FMO3_000012 abolishes activity for TMA PubMed: Treacy 1998,PubMed: Akerman 1999 - rs72549323 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 3 c.198G>T - r.(?) p.(Met66Ile) - pathogenic (recessive) g.171072991G>T g.171103850G>T - - FMO3_000012 expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation - - rs72549323 SUMMARY record - - - 0 - Ornicha Prapapan
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