Full data view for gene CLN3

Information The variants shown are described using the NM_000086.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
./. 3i c.222+5G>C r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.28500606C>G Schulz per comm CLN3_000006 - ? ? NCL - - - 1 Y Yang
./. 3i c.222+5G>C r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.28500606C>G Kousi M1, Lehesjoki AE, Mole SE.(2012) CLN3_000006 - ? ? NCL Kousi M1, Lehesjoki AE, Mole SE.(2012) Germany - 1 Y Yang
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