Individual #00002696

Reference -
Ethnic origin -
Remarks -
Panel size 1
Diseases NCL
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     
0000002696 ? ? CLN3 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.28502879C>A Kwon et al. Neurosci Lett 387: 111-4-114 2005 CLN3_000001 - Y Yang CLN3 2 NM_000086.2:c.49G>T r.(?) p.(Glu17*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
Legend   How to query