Individual #00249039

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VIP 0
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Panel size 1
Diseases Epidermolysis bullosa pruriginosa
Owner name Peter van den Akker


Phenotypes

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

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Owner     
0000187997 inversa - - Familial, autosomal recessive - - - - - Peter van den Akker



Screenings


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Variants found     

Owner     
0000250146 DNA SEQ - - COL7A1 1 Peter van den Akker



Variants

1 entry on 1 page. Showing entry 1.
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Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Protein level     
3 Parent #1 +/? g.48604617G>A - - - COL7A1_000089 premature termination codon; unknown variant 2nd chromosome {PMID:Van den Akker 2011 J Med Genet 48:160:21113014} - - Unknown - - - 0 - Peter van den Akker COL7A1 - - - - - 109 NM_000094.3:c.8053C>T - pathogenic (recessive) r.(?) p.(Arg2685*) - - - - - - - - - - - - - - - - - - -
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