Full data view for gene PRNP

Information The variants shown are described using the NM_000311.3 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     
./. 2 c.435T>A r.(?) p.(Tyr145*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.4680301T>A Kitamoto T1, Iizuka R, Tateishi J.(1993) PRNP_000032 - ? ? GSS Kitamoto T1, Iizuka R, Tateishi J.(1993) - - 1 Y Yang
./. 2 c.435T>A r.(?) p.(Tyr145*) - - Unknown g.4680301T>A Zhang W et al. (2016) PRNP_000032 - ? ? AD Zhang W et al. (2016) - associate 1 XY Liu
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