All variants in the PRNP gene

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

7 entries on 1 page. Showing entries 1 - 7.
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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.351A>G r.(?) p.(=) - - benign g.4680217A>G g.4699571A>G A117A - PRNP_000021 - {PMID02564168:Hsiao 1989} - - Germline - - PvuII- - - Johan den Dunnen
-/? 2 c.351A>G r.(?) p.(=) - - benign g.4680217A>G g.4699571A>G - - PRNP_000021 - {PMID08829666:Palmer 1996} - - Germline - 7/124 chromosomes PvuII- - - Johan den Dunnen
-/? 2 c.351A>G r.(?) p.(=) - - benign g.4680217A>G g.4699571A>G - - PRNP_000021 - {PMID07501157:Mastrianni 1995} - - Germline - - PvuII- - - Johan den Dunnen
-/? 2 c.351A>G r.(?) p.(=) - - benign g.4680217A>G g.4699571A>G A117A - PRNP_000021 - {PMID07902693:Pocchiari 1993} - - Germline - - - - - Johan den Dunnen
-/. - c.351A>G r.(?) p.(Ala117=) - - benign g.4680217A>G g.4699571A>G PRNP(NM_000311.4):c.351A>G (p.A117=) - PRNP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.351A>G r.(?) p.(Ala117=) - - benign g.4680217A>G g.4699571A>G PRNP(NM_000311.4):c.351A>G (p.A117=) - PRNP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.351A>G r.(?) p.(Ala117=) - - benign g.4680217A>G g.4699571A>G PRNP(NM_000311.4):c.351A>G (p.A117=) - PRNP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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