Individual #00249059

ID_report -
Reference -
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VIP 0
Data_av -
Treatment -
Panel size 1
Diseases epidermolysis bullosa, pretibial
Owner name Peter van den Akker


Phenotypes

epidermolysis bullosa dystrophica, autosomal recessive (RDEB) (RDEB)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Protein     

Owner     
0000188017 severe generalized - - Familial, autosomal recessive - - - - - Peter van den Akker



Screenings


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Variants found     

Owner     
0000250166 DNA SEQ - - COL7A1 2 Peter van den Akker



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Protein level     
3 Parent #2 +/? g.48618019G>A - - - COL7A1_000023 premature termination codon PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker COL7A1 - - - - - 54 NM_000094.3:c.5047C>T - pathogenic (recessive) r.(?) p.(Arg1683*) - - - - - - - - - - - - - - - - - - -
3 Parent #1 +/? g.48631083dupG - - - COL7A1_000022 premature termination codon PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker COL7A1 - - - - - 3 NM_000094.3:c.313dup - pathogenic (recessive) r.(?) p.(Arg105Profs*5) - - - - - - - - - - - - - - - - - - -
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