Individual #00001813

Reference Tabaraud F1, Lagrange E, Sindou P, Vandenberghe A, Levy N, Vallat JM.(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


AscendingScreening ID     

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Variants found     

Owner     
0000001813 ? ? GJB1 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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Variant/VariO/protein     
X Unknown ./. g.70443861G>T Tabaraud F1, Lagrange E, Sindou P, Vandenberghe A, Levy N, Vallat JM.(1999) GJB1_000018 - Y Yang GJB1 2 NM_001097642.2:c.304G>T r.(?) p.(Glu102*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
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