All variants in the PRNP gene

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     

Haplotype     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 2 c.225_226ins204_251ins204_251{246A>G}ins180_227 r.(?) p.(Pro60_Gln67)[10] 11 - likely pathogenic g.4680091_4680092ins144 - - - PRNP_000013 11 haplotype 1-2-2-2-3-2-3g-2-2-3-4 PubMed: Goldfarb 1991 - - Germline ? - - 0 - Johan den Dunnen
+/. 2 c.225_226ins204_251ins204_251{246A>G}ins180_227 r.(?) p.(Pro60_Gln67)[10] 11 - pathogenic g.4680091_4680092ins144 - 6-OPRI - PRNP_000013 11 haplotype 1-2-2-2-3-2-3g-2-2-3-4 PubMed: Owen 2014 - - Germline yes - - 0 - J Beck
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