Full data view for gene FMO3

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

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 3 c.209C>T - r.(?) p.(Pro70Leu) Parent #1 - pathogenic (recessive) g.171073002C>T g.171103861C>T g.16919C>T - FMO3_000014 - PubMed: Shimizu 2012 - - Germline yes 2/1280 chromosomes - - - DNA SEQ - - TMAU 22819296-Pat5 PubMed: Shimizu 2012 - M - Japan - - - - - 1 Ornicha Prapapan
+/+ 3 c.209C>T - r.(?) p.Pro70Leu Unknown - NA g.171073002C>T g.171103861C>T - - FMO3_000014 cDNA expression cloning in E.coli showes lower Kcat/Km for N-oxygenation of trimethylamine (0.55) and benzydamine (0.46) PubMed: Shimizu 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.209C>T - r.(?) p.(Pro70Leu) Unknown - pathogenic (recessive) g.171073002C>T g.171103861C>T - - FMO3_000014 expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.209C>T - r.(?) p.(Pro70Leu) Parent #2 - pathogenic (recessive) g.171073002C>T g.171103861C>T g.16919C>T - FMO3_000014 - PubMed: Shimizu 2012 - - Germline yes 2/1280 chromosomes - - - DNA SEQ buccal cells - TMAU 22819296-Pat3 PubMed: Shimizu 2012 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3 c.209C>T - r.(?) p.(Pro70Leu) Parent #2 - pathogenic (recessive) g.171073002C>T g.171103861C>T - - FMO3_000014 - PubMed: Fujieda 2003 - - Germline - - - - - DNA SEQ - - TMAU ? PubMed: Fujieda 2003 - - - - - - - - - 1 Ornicha Prapapan
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