Individual #00004599

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     
0000004599 ? ? TSC2 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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.2122286_2122301delTGAGTCCCTGCGCTAT - TSC2_000075 - Y Yang TSC2 19 NM_000548.3:c.2142_2157delTGAGTCCCTGCGCTAT r.(?) p.(Glu715Lysfs*51) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
Legend   How to query