All variants in the FMO3 gene

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

8 entries on 1 page. Showing entries 1 - 8.
Legend   How to query  

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.172G>A - r.(?) p.(Val58Ile) - pathogenic (recessive) g.171072965G>A g.171103824G>A g.11166G>A - FMO3_000007 1 Thai; impaired TMA N-oxygenation capacity PubMed: Kubota 2002 - rs144935285 Germline yes - - 0 - Ornicha Prapapan
+/+ 3 c.172G>A - r.(?) p.Val58Ile - NA g.171072965G>A g.171103824G>A - - FMO3_000007 Vmax/Km for TMA 79% decreased PubMed: Kubota 2002 - rs72549332 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 3 c.172G>A - r.(?) p.Val58Ile - NA g.171072965G>A g.171103824G>A - - FMO3_000007 cDNA expression cloning in E.coli showes lower Kcat/Km for N-oxygenation of trimethylamine (0.72) and benzydamine (0.46) PubMed: Shimizu 2012 - rs72549332 In vitro (cloned) - - - 0 - Ornicha Prapapan
+/+ 3 c.172G>A - r.(?) p.(Val58Ile) - pathogenic (recessive) g.171072965G>A g.171103824G>A - - FMO3_000007 expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation - - - SUMMARY record - - - 0 - Ornicha Prapapan
+/+ 3 c.172G>A - r.(?) p.(Val58Ile) - pathogenic (recessive) g.171072965G>A g.171103824G>A g.16882G>A - FMO3_000007 - PubMed: Shimizu 2012 - rs144935285 Germline yes 6/1280 chromosomes - 0 - Ornicha Prapapan
+/+ 3 c.172G>A - r.(?) p.(Val58Ile) - pathogenic (recessive) g.171072965G>A g.171103824G>A g.16882G>A - FMO3_000007 - PubMed: Shimizu 2012 - rs144935285 Germline yes 6/1280 chromosomes - 0 - Ornicha Prapapan
?/. - c.172G>A - r.(?) p.(Val58Ile) - VUS g.171072965G>A g.171103824G>A - - FMO3_000007 16 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144935285 Germline - 16/2795 individuals - 0 - Mohammed Faruq
?/. - c.172G>A - r.(?) p.(Val58Ile) - VUS g.171072965G>A g.171103824G>A - - FMO3_000007 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144935285 Germline - 1/2795 individuals - 0 - Mohammed Faruq
Legend   How to query