Full data view for gene FMO3

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     

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     
-/- 4 c.341A>G - r.(?) p.(Asn114Ser) Unknown - benign g.171076835A>G g.171107694A>G g.15036A>G - FMO3_000005 not causative of TMAU, no effect in vitro PubMed: Shimizu et al. 2007 - rs186763441 Germline no 0/100 chromosomes - 0 - - - - - - - - - - - - - - - - - - -
-/- 4 c.341A>G - r.(?) p.(Asn114Ser) Maternal (confirmed) - benign g.171076835A>G g.171107694A>G - - FMO3_000005 - PubMed: Shimizu 2012 - rs186763441 Germline no 1/1280 chromosomes - 0 - DNA SEQ - - TMAU 22819296-Pat1 PubMed: Shimizu 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - 0 - - 1 Ornicha Prapapan
-?/. - c.341A>G - r.(?) p.(Asn114Ser) Unknown - likely benign g.171076835A>G g.171107694A>G - - FMO3_000005 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.014 - 0 - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - 0 - - 1 Global Variome, with Curator vacancy
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