Full data view for gene CTSD

Information The variants shown are described using the NM_001909.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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     
./. 3 c.299C>T r.(?) p.(Ser100Phe) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.1780799G>A Fritchie et al 2008. Acta Neuropathol 117: 201-208 CTSD_000001 - ? ? NCL - - - 1 Y Yang
./. 5 c.685T>A r.(?) p.(Phe229Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.1778573A>T Steinfeld et al. 2006. Am J Hum Genet 78:988-98 CTSD_000002 - ? ? NCL - - - 1 Y Yang
./. 9 c.1149G>C r.(?) p.(Trp383Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.1774823C>G Steinfeld et al. 2006. Am J Hum Genet 78:988-9 CTSD_000003 - ? ? NCL - - - 1 Y Yang
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