Individual #00249450

ID_report -
Reference -
Remarks family with 4 affecteds
Gender -
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 4
Diseases FHCL2
Owner name Ellen Thomas


Phenotypes

hypercholesterolemia, familial, type 2 (FHCL2) (FHCL2)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000188413 hypercholesterolaemia with tendon xanthomas - - Familial, autosomal dominant - - - - - Ellen Thomas



Screenings


AscendingScreening ID     

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Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000250557 DNA SEQ - - APOB 1 Ellen Thomas



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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Reference     

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Segregation     

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Owner     

Gene     

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Exon     

DNA change (cDNA)     

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ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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Predict/AGVGD     

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Predict/MutationTaster     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
2 Parent #1 +/+ g.21265322G>A - - - APOB_000012 reads containing variant: 63/118, 38/90, 41/93, 40/86; normal 2nd chromosome PubMed: Thomas 2013 - - Germline ? - - 0 - Ellen Thomas APOB - - - - - 3 NM_000384.2:c.148C>T - pathogenic r.(?) p.(Arg50Trp) - - - - - - - - - - - - - - - - - - -
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