Transcript #00000118 (NM_018941.3, CLN8 gene)

Transcript name ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Gene name CLN8 (ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation))
Chromosome 8
Transcript - NCBI ID NM_018941.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_061764.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

24 entries on 1 page. Showing entries 1 - 24.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
./. 2 c.66delG r.(?) p.(Ile23Serfs*5) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
./. 2 c.70C>G r.(?) p.(Arg24Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 2 c.88delG r.(?) p.(Ala30Leufs*20) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
./. 2 c.88G>C r.(?) p.(Ala30Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 2 c.180_182delGAA r.(?) p.(Lys61del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion
./. 2 c.209G>A r.(?) p.(Arg70His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 2 c.227A>G r.(?) p.(Gln76Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 2 c.320T>G r.(?) p.(Ile107Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 2 c.374A>G r.(?) p.(Asn125Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 2 c.415C>T r.(?) p.(His139Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
./. 2 c.470A>G r.(?) p.(His157Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 2 c.473A>G r.(?) p.(Tyr158Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 2i-3 c.544-2566_590del r.? p.? VariO:0141 DNA deletion -
./. 3 c.581A>C r.(?) p.(Gln194Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 3 c.610C>T r.(?) p.(Arg204Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
./. 3 c.611G>T r.(?) p.(Arg204Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 3 c.620T>G r.(?) p.(Leu207Arg) - -
./. 3 c.637_639delTGG r.(?) p.(Trp213del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion
./. 3 c.661G>A r.(?) p.(Gly221Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 3 c.685C>G r.(?) p.(Pro229Ala) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 3 c.709G>A r.(?) p.(Gly237Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 3 c.763C>G r.(?) p.(Gln255Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 3 c.789G>C r.(?) p.(Trp263Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 3 c.806A>T r.(?) p.(Glu269Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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