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     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Remarks     

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Consanguinity     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 4 c.458C>T - r.(?) p.(Pro153Leu) Unknown - pathogenic (recessive) g.171076952C>T g.171107811C>T g.15153C>T - FMO3_000001 Rare variant. 14 probands of European origin PubMed: Dolphin et al. 1997, PubMed: Treacy et al. 1998 - rs72549326 Germline yes 0/60 chromosomes - 0 - DNA SEQ - - TMAU ? PubMed: Dolphin 1997, PubMed: Treacy 1998 - - - - - - 0 - - 1 Ornicha Prapapan
+/+ 4 c.458C>T - r.(?) p.Pro153Leu Unknown - NA g.171076952C>T g.171107811C>T - - FMO3_000001 variant expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S-oxygenation; impaired benzydamine N-oxygenation in compound het with E305X or with S173R PubMed: Mayatepek 2004 - rs72549326 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.458C>T - r.(?) p.Pro153Leu Unknown - NA g.171076952C>T g.171107811C>T - - FMO3_000001 abolishes activity for TMA and methimazole PubMed: Treacy 1998, PubMed: Dolphin 1997 - rs72549326 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.458C>T - r.(?) p.(Pro153Leu) Unknown - pathogenic (recessive) g.171076952C>T g.171107811C>T Pro153Leu - FMO3_000001 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat12 PubMed: Ferreira 2013 - F - Portugal - - 0 - - 1 Johan den Dunnen
+/+ 4 c.458C>T - r.(?) p.(Pro153Leu) Unknown - pathogenic (recessive) g.171076952C>T g.171107811C>T Pro153Leu - FMO3_000001 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - DNA SEQ - - TMAU 23791655-Pat17 PubMed: Ferreira 2013 - F - Portugal - - 0 - - 1 Johan den Dunnen
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