Individual #00103136

ID_report ?
Reference PubMed: Park 1999
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     

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Age/Diagnosis     

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Phenotype details     

Protein     

Owner     
0000081221 - Unknown - - - - - - - Ornicha Prapapan



Screenings


AscendingScreening ID     

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Technique     

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Remarks     

Genes screened     

Variants found     

Owner     
0000103590 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     

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Exon     

DNA change (cDNA)     

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ClassClinical     

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Exon_old     

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Predicted     

Type/DNA     

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mRNA level     

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Protein level     
1 Unknown +/+ g.171076936G>T g.171107795G>T g.15137G>T - FMO3_000006 Rare variant. 1/140 Korean chromosomes. Truncated protein. Expected to cause TMAU; het had low FMO3 activity as judged by low theobromine/caffeine ratio (0.64) PubMed: Park et al. 1999 - rs72549325 Germline ? 1/140 chromosomes - 0 - Ornicha Prapapan FMO3 - - - - - 4 NM_001002294.2:c.442G>T - pathogenic (recessive) r.(?) p.(Gly148*) - - - - - - - - - - - - - - - - - - -
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