All variants in the PRNP gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.372C>G r.(?) p.(=) - - benign g.4680238C>G g.4699592C>G - - PRNP_000022 - {PMID07916191:Ghetti 1994} - - Germline - - - - - Johan den Dunnen
-/? 2 c.372C>G r.(?) p.(=) - - benign g.4680238C>G g.4699592C>G 421C>G (G124G) - PRNP_000022 - {PMID10790216:Peoc'h 2000} - - Germline - - EcoO109I- - - Johan den Dunnen
-?/. - c.372C>G r.(?) p.(Gly124=) - - likely benign g.4680238C>G - PRNP(NM_000311.4):c.372C>G (p.G124=) - PRNP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.372C>G r.(?) p.(Gly124=) - - likely benign g.4680238C>G - PRNP(NM_000311.4):c.372C>G (p.G124=) - PRNP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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