Individual #00001021

Reference Matěj R1, Kovacs GG, Johanidesová S, Keller J, Matěj?ková M, Nováková J, Sigut V, Keller O, Rusina R.(2012)
Ethnic origin -
Remarks -
Panel size 1
Diseases CJD
Owner name Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000001021 ? ? PRNP 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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DNA change (cDNA)     

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Variant/VariO/protein     
20 Unknown ./. g.4680489G>A Matěj R1, Kovacs GG, Johanidesová S, Keller J, Matěj?ková M, Nováková J, Sigut V, Keller O, Rusina R.(2012) PRNP_000007 - Y Yang PRNP 2 NM_000311.3:c.623G>A r.(?) p.(Arg208His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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