Individual #00004562

Reference -
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     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004562 ? ? TSC2 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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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.2112588G>T - TSC2_000038 - Y Yang TSC2 12 NM_000548.3:c.1348G>T r.(?) p.(Glu450*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
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