Individual #00103194

ID_report 22819296-Pat6
Reference PubMed: Shimizu 2012
Remarks -
Gender F
Consanguinity -
Country Japan
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases TMAU
Owner name Johan den Dunnen


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     
0000081275 - Familial, autosomal recessive 31y - - - - fish odor syndrome - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103647 DNA SEQ buccal cells - FMO3 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     

Frequency     

Re-site     

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     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
1 Parent #2 +/+ g.171086245G>T g.171117105G>T g.30162G>T (Gly421Val) - FMO3_000013 - PubMed: Shimizu 2012 - rs61757397 Germline yes 2/1280 chromosomes - 0 - Ornicha Prapapan FMO3 - - - - - 9 NM_001002294.2:c.1262G>T - pathogenic (recessive) r.(?) p.(Gly421Val) - - - - - - - - - - - - - - - - - - -
1 Parent #1 +/+ g.171086481C>T g.171117341C>T Arg500stop - FMO3_000016 - PubMed: Shimizu 2012 - - Germline yes - - 0 - Ornicha Prapapan FMO3 - - - - - 9 NM_001002294.2:c.1498C>T - pathogenic (recessive) r.(?) p.(Arg500*) - - - - - - - - - - - - - - - - - - -
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