Individual #00001755

Reference Fabrizi GM1, Taioli F, Cavallaro T, Rigatelli F, Simonati A, Mariani G, Perrone P, Rizzuto N.(2000)
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


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Owner     
0000001755 ? ? MPZ 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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AscendingDNA change (genomic) (hg19)     

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1 Unknown ./. g.161277136T>A Fabrizi GM1, Taioli F, Cavallaro T, Rigatelli F, Simonati A, Mariani G, Perrone P, Rizzuto N.(2000) MPZ_000023 - Y Yang MPZ 2 NM_000530.6:c.146A>T r.(?) p.(His49Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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