Individual #00002937

Reference Kousi M1, Lehesjoki AE, Mole SE.(2012)
Ethnic origin Turkey
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     

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Technique     

Genes screened     

Variants found     

Owner     
0000002937 ? ? CLN6 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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DB-ID     

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Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
15 Unknown ./. g.68503627A>T Kousi M1, Lehesjoki AE, Mole SE.(2012) CLN6_000051 - Y Yang CLN6 5 NM_017882.2:c.516T>A r.(?) p.(Tyr172*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
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