Individual #00001819

Reference Meggouh F1, Benomar A, Rouger H, Tardieu S, Birouk N, Tassin J, Barhoumi C, Yahyaoui M, Chkili T, Brice A, LeGuern E.(1998)
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     
0000001819 ? ? GJB1 1 Y Yang



Variants

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Chr     

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AscendingDNA change (genomic) (hg19)     

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X Unknown ./. g.70443696G>T Meggouh F1, Benomar A, Rouger H, Tardieu S, Birouk N, Tassin J, Barhoumi C, Yahyaoui M, Chkili T, Brice A, LeGuern E.(1998) GJB1_000023 - Y Yang GJB1 2 NM_001097642.2:c.139G>T r.(?) p.(Glu47*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
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