Individual #00005954

Reference Zhang Z et al. (2015)
Ethnic origin -
Remarks -
Panel size 1
Diseases TSC
Owner name XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005973 ? ? TSC2 1 XY Liu



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
16 Unknown ./. g.2134481_2134484delTCAG Zhang Z et al. (2015) TSC2_000248 - XY Liu TSC2 34 NM_000548.4:c.4258_4261delTCAG r.(?) p.(Ser1420Glyfs*55) - -
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