All variants in the PRNP gene

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

23 entries on 1 page. Showing entries 1 - 23.
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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.385A>G r.(?) p.(Met129Val) - - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID07501157:Mastrianni 1995} - - Germline - - - - - Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID07501157:Mastrianni 1995} - - Germline - - - - - Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID08461023:Kitamoto 1993} - - Germline - - - - - Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID08461023:Kitamoto 1993} - - Germline - - - - - Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID08461023:Kitamoto 1993} - - Germline - - - - - Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID07916191:Ghetti 1994} - - Germline - - - - - Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID07916191:Ghetti 1994} - - Germline - - - - - Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID07783865:Reder 1995} - - Germline - - - - - Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID07783865:Reder 1995} - - Germline - - - - - Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID08030960:Masullo 1994} - - Germline - - - - - Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID08030960:Masullo 1994} - - Germline - - - - - Johan den Dunnen
-/? 2 c.385A>G r.(?) p.(Met129Val) - - benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID10408557:Yamada 1993} - - Germline - - - - - Johan den Dunnen
-/? 2 c.385A>G r.(?) p.(Met129Val) - - benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID07902693:Pocchiari 1993} - - Germline - - - - - Johan den Dunnen
-/? 2 c.385A>G r.(?) p.(Met129Val) - - benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID07902693:Pocchiari 1993} - - Germline - - - - - Johan den Dunnen
-/? 2 c.385A>G r.(?) p.(Met129Val) - - benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID10581230:Laplanche 1999} - - Germline - - - - - Johan den Dunnen
?/? 2 c.385A>G r.(?) p.(Met129Val) - - VUS g.4680251A>G g.4699605A>G - - PRNP_000023 - - - rs1799990 Unknown - - - - - Johan den Dunnen
-?/. 2 c.385A>G r.(?) p.(Met129Val) - - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - PubMed: Beck 2010 - - Unknown ? - - 0 - Johan den Dunnen
-?/. 2 c.385A>G r.(?) p.(Met129Val) - - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - PubMed: Beck 2010 - - Unknown ? - - 0 - Johan den Dunnen
-?/. 2 c.385A>G r.(?) p.(Met129Val) - - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - PubMed: Beck 2010 - - Germline ? - - 0 - Johan den Dunnen
-/. - c.385A>G r.(?) p.(Met129Val) - - benign g.4680251A>G g.4699605A>G PRNP(NM_000311.4):c.385A>G (p.M129V), PRNP(NM_000311.5):c.385A>G (p.M129V) - PRNP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.385A>G r.(?) p.(Met129Val) - - benign g.4680251A>G g.4699605A>G PRNP(NM_000311.4):c.385A>G (p.M129V), PRNP(NM_000311.5):c.385A>G (p.M129V) - PRNP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.385A>G r.(?) p.(Met129Val) - - benign g.4680251A>G g.4699605A>G PRNP(NM_000311.4):c.385A>G (p.M129V), PRNP(NM_000311.5):c.385A>G (p.M129V) - PRNP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.385A>G r.(?) p.(Met129Val) - - benign g.4680251A>G g.4699605A>G PRNP(NM_000311.4):c.385A>G (p.M129V), PRNP(NM_000311.5):c.385A>G (p.M129V) - PRNP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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