Individual #00226199

ID_report 23791655-Pat9
Reference PubMed: Ferreira 2013
Remarks -
Gender F
Consanguinity -
Country Portugal
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     
0000171301 trimethylaminuria Familial, autosomal recessive 4y - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000227274 DNA SEQ - - FMO3 4 Johan den Dunnen



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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 Both (homozygous) +?/- g.171076935C>T g.171107794C>T Ser147Ser - FMO3_000092 - PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen FMO3 - - - - - 4 NM_001002294.2:c.441C>T - likely pathogenic r.(?) p.(Ser147=) - - - - - - - - - - - - - - - - - - -
1 Unknown +?/- g.171083242A>G g.171114102A>G Glu308Gly - FMO3_000083 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen FMO3 - - - - - 7 NM_001002294.2:c.923A>G - likely pathogenic r.(?) p.(Glu308Gly) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/? g.171085414G>T - Arg417Leu - FMO3_000115 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen FMO3 - - - - - 8 NM_001002294.2:c.1250G>T - VUS r.(?) p.(Arg417Leu) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/? g.171086265A>T g.171117125A>T Thr428Ser - FMO3_000080 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - 0 - Johan den Dunnen FMO3 - - - - - 9 NM_001002294.2:c.1282A>T - VUS r.(?) p.(Thr428Ser) - - - - - - - - - - - - - - - - - - -
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