Individual #00002716

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     
0000002716 ? ? 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.28497786_28497787delCT Munroe et al. Am J Hum Genet 61:310-316 1997 CLN3_000021 - Y Yang CLN3 8 NM_000086.2:c.558_559delAG r.(?) p.(Gly187Aspfs*48) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
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