All variants in the PRNP gene

Information The variants shown are described using the NM_000311.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.249_250ins204_251{246A>G}ins180_251 r.(?) p.(Pro60_Gln67)[9] 10 - likely pathogenic g.4680115_4680116ins120 - - - PRNP_000006 10 haplotype 1-2-2-3-2-3g-2-2-3-4 PubMed: Goldfarb 1991 - - Germline - - - 0 - Johan den Dunnen
+?/. 2 c.249_250ins204_251{246A>G}ins180_251 r.(?) p.(Pro60_Gln67)[9] 10 - likely pathogenic g.4680115_4680116ins120 - 5-OPRI - PRNP_000006 10 haplotype 1-2-2-3-2-3g-2-2-3-4 (Northern Ireland) PubMed: Owen 2014 - - Germline yes - - 0 - J Beck
+?/. 2 c.249_250ins204_251{246A>G}ins180_251 r.(?) p.(Pro60_Gln67)[9] 10 - likely pathogenic g.4680115_4680116ins120 - - - PRNP_000006 10 haplotype 1-2-2-3-2-3g-2-2-3-4 PubMed: Mead 2007 - - Unknown ? - - 0 - Johan den Dunnen
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