Individual #00002721

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     
0000002721 ? ? 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.28497748G>T Sarpong et al. 2009. Clin Genet. 76:38-45;Stone pers comm CLN3_000026 - Y Yang CLN3 8 NM_000086.2:c.597C>A r.(?) p.(Tyr199*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
Legend   How to query