Individual #00249491

ID_report -
Reference PubMed: Tarugi 2000
Remarks -
Gender M
Consanguinity -
Country Italy
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 8
Diseases FHBL-1
Owner name Amanda Hooper


Phenotypes

hypobetalipoproteinemia, familial, type 1 (FHBL-1) (FHBL-1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000188444 - - - Familial, autosomal dominant - 45y - - - Amanda Hooper



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000250598 DNA SEQ - - APOB 1 Amanda Hooper



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     

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     
2 Maternal (confirmed) +/+ g.21232235G>T - - - APOB_000106 apoB-54.5; normal 2nd chromosome PubMed: Tarugi 2007 - - Germline yes - - 0 - Amanda Hooper APOB - - - - - 26 NM_000384.2:c.7505C>A - pathogenic r.(?) p.(Ser2502*) - - - - - - - - - - - - - - - - - - -
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