Individual #00103177

ID_report ?
Reference PubMed: Fujieda 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     
0000081262 - Unknown - - - - - - - Ornicha Prapapan



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103631 DNA SEQ - - FMO3 5 Ornicha Prapapan



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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.171073002C>T - - - FMO3_000014 - PubMed: Fujieda 2003 - - Germline - - - 0 - Johan den Dunnen FMO3 - - - - - 3 NM_001002294.2:c.209C>T - pathogenic (recessive) r.(?) p.(Pro70Leu) - - - - - - - - - - - - - - - - - - -
1 Parent #1 -/. g.171076935C>T - 20852C>T - FMO3_000092 - PubMed: Fujieda 2003 - - Germline - - - 0 - Johan den Dunnen FMO3 - - - - - - NM_001002294.2:c.441C>T - benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
1 Parent #1 -/. g.171077043_171077045del - 20960_20962delCTT - FMO3_000110 - PubMed: Fujieda 2003 - - Germline - - - 0 - Johan den Dunnen FMO3 - - - - - 4i NM_001002294.2:c.484+65_484+67del - benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
1 Parent #1 -/. g.171077198G>A - 21115G>A - FMO3_000111 - PubMed: Fujieda 2003 - - Germline - - - 0 - Johan den Dunnen FMO3 - - - - - 4i NM_001002294.2:c.485-22G>A - benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
1 Parent #1 +/+ g.171077326_171077329delinsAA g.171108185_171108188delinsAA 21243_21244delTG, 21246T>A (Asp198Glu) - FMO3_000109 - PubMed: Fujieda 2003 - rs3832024 Germline yes - - 0 - Ornicha Prapapan FMO3 - - - - - 5 NM_001002294.2:c.591_594delinsAA - pathogenic (recessive) r.(?) p.(Cys197*) - - - - - - - - - - - - - - - - - - -
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