Individual #00004593

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     
0000004593 ? ? 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.2121897_2121900dup - TSC2_000069 - Y Yang TSC2 18 NM_000548.3:c.2059_2062dup r.(?) p.(Leu689Profs*15) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel
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