Individual #00033794

ID_report -
Reference PubMed: Braenne 2016, Journal: Braenne 2016
Remarks -
Gender -
Consanguinity -
Country Germany
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MCI-1, hypercholesterolemia, autosomal dominant, type B
Owner name Mariana Kleinecke


Phenotypes

hypercholesterolemia, autosomal dominant, type B (-)   Add phenotype for this disease

AscendingPhenotype ID     

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Owner     
0000027193 - - - Familial, autosomal dominant - - - - - Mariana Kleinecke



Screenings


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Variants found     

Owner     
0000033862 DNA SEQ-NG - - - 1 Mariana Kleinecke



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Exon_old     

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Protein level     
2 Parent #1 ?/. g.21229703C>A g.21006831C>A - - APOB_000196 - PubMed: Braenne 2016, Journal: Braenne 2016 - - Germline no - - 0 - Mariana Kleinecke APOB - - - - - 26 NM_000384.2:c.10037G>T - - r.(?) p.(Ser3346Ile) - - - - - - - - - - - - - - - - - - -
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