Individual #00103140

ID_report ?
Reference PubMed: Furnes 2003, PubMed: Lattard 2003, PubMed: Cashman 2003
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases TMAU
Owner name Ornicha Prapapan


Phenotypes

trimethylaminuria (TMAU, body odor, fish-like)) (TMAU)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000081225 - Unknown - - - - - - - Ornicha Prapapan



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103594 DNA SEQ - - FMO3 1 Ornicha Prapapan



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

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Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
1 Unknown +?/+? g.171076888G>C g.171107747G>C g.15089G>C - FMO3_000033 Population-specific polymorphic variant: African Americans (7/260 chromosomes), European Americans (0/240 chromosomes). dbSNP: 0/88 Asian chromosomes. Possibly causative of moderate TMAU; homozygotes excreted ~70% of TMA as TMA N-oxide PubMed: Furnes et al. 2003, PubMed: Lattard et al. 2003 - rs12072582 Germline ? - - 0 - Ornicha Prapapan FMO3 - - - - - 4 NM_001002294.2:c.394G>C - likely pathogenic (recessive) r.(?) p.(Asp132His) - - - - - - - - - - - - - - - - - - -
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