Individual #00001811

Reference B?hr M1, Andres F, Timmerman V, Nelis ME, Van Broeckhoven C, Dichgans J.(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


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Owner     
0000001811 ? ? GJB1 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

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AscendingDNA change (genomic) (hg19)     

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X Unknown ./. g.70443840G>A B?hr M1, Andres F, Timmerman V, Nelis ME, Van Broeckhoven C, Dichgans J.(1999) GJB1_000016 - Y Yang GJB1 2 NM_001097642.2:c.283G>A r.(?) p.(Val95Met) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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