Individual #00002697

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     
0000002697 ? ? CLN3 1 Y Yang



Variants

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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.28502823C>T Drury pers comm;Schulz pers comm CLN3_000002 - Y Yang CLN3 2 NM_000086.2:c.105G>A r.(?) p.(Trp35*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0015 protein truncation
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