Individual #00001719

Reference Fabrizi GM1, Cavallaro T, Taioli F, Orrico D, Morbin M, Simonati A, Rizzuto N.(1999)
Ethnic origin -
Remarks -
Panel size 1
Diseases HMSN
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     
0000001719 ? ? PMP22 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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Variant/VariO/protein     
17 Unknown ./. g.15162479T>A Fabrizi GM1, Cavallaro T, Taioli F, Orrico D, Morbin M, Simonati A, Rizzuto N.(1999) PMP22_000006 - Y Yang PMP22 3 NM_000304.3:c.110A>T r.(?) p.(Asp37Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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