Individual #00002896

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     
0000002896 ? ? CLN5 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     
13 Unknown ./. g.77566147C>T Kousi M1, Lehesjoki AE, Mole SE.(2012) CLN5_000033 - Y Yang CLN5 1 NM_006493.2:c.61C>T r.(?) p.(Pro21Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
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