Individual #00002707

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     
0000002707 ? ? CLN3 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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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.28498813delC Munroe et al. Am J Hum Genet 61:310-316 1997;Bensaoula et al. Ophthalmology 107: 1746-1753 2000 CLN3_000012 - Y Yang CLN3 6 NM_000086.2:c.424delG r.(?) p.(Val142Leufs*39) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
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