Individual #00001728

Reference Yener GG1, Guiochon-Mantel A, Obuz F, Baklan B, Oztürk V, Kovanlikaya I, Cakmur R, Gen? A.(2001)
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     
0000001728 ? ? 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.15142855_15142857delGAA Yener GG1, Guiochon-Mantel A, Obuz F, Baklan B, Oztürk V, Kovanlikaya I, Cakmur R, Gen? A.(2001) PMP22_000015 - Y Yang PMP22 5 NM_000304.3:c.250_252delTTC r.(?) p.(Phe84del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion
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