Individual #00001717

Reference Kousseff BG, Hadro TA, Treiber DL, Wollner T, Morris C.(1982)
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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Genes screened     

Variants found     

Owner     
0000001717 ? ? PMP22 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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Variant/VariO/protein     
17 Unknown ./. g.15142908C>G Kousseff BG, Hadro TA, Treiber DL, Wollner T, Morris C.(1982) PMP22_000004 - Y Yang PMP22 4 NM_000304.3:c.199G>C r.(?) p.(Ala67Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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