Individual #00004725

Reference Liu Q1, Huang Y, Zhang M, Wang LQ, Guo XN, Si N, Qi Z, Zhou XQ, Cui LY.(2014)
Ethnic origin -
Remarks -
Panel size 1
Diseases TSC
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     
0000004725 ? ? TSC2 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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Variant/VariO/protein     
16 Unknown ./. g.2103362G>A Liu Q1, Huang Y, Zhang M, Wang LQ, Guo XN, Si N, Qi Z, Zhou XQ, Cui LY.(2014) TSC2_000198 - Y Yang TSC2 3 NM_000548.3:c.245G>A r.(?) p.(Trp82*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0015 protein truncation
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