Full data view for gene CLN6

Information The variants shown are described using the NM_017882.2 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     
./. 4 c.368G>A r.(?) p.(Gly123Asp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.68504131C>T Wheeler et al. 2002Am J Hum Genet 70: 537-542 CLN6_000019 - ? ? NCL - - - 1 Y Yang
./. 4 c.368G>A r.(?) p.(Gly123Asp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.68504131C>T Wheeler et al. 2002Am J Hum Genet 70: 537-542 CLN6_000019 - ? ? NCL - - - 1 Y Yang
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