Full data view for gene PRNP

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/? 2 c.655G>A r.(?) p.(Glu219Lys) - Maternal (inferred) - likely benign g.4680521G>A g.4699875G>A - - PRNP_000038 - {PMID10672318:Seno 2000} - - Germline - - - - - DNA PCRdig, SEQ - - CJD - - daugther Case2 F ? Japan - - - - - 1 Johan den Dunnen
-/? 2 c.655G>A r.(?) p.(Glu219Lys) - Parent #1 - benign g.4680521G>A g.4699875G>A - - PRNP_000038 - {PMID10889337:Muramoto 2000} - - Germline - - - - - DNA, protein PCRdig, SEQ - - GSD - - - ? ? Japan - - - - - 1 Johan den Dunnen
-/? 2 c.655G>A r.(?) p.Glu219Lys - Parent #1 - benign g.4680521G>A g.4699875G>A - - PRNP_000038 - {PMID10889337:Muramoto 2000} - - Germline - - - - - DNA, protein PCRdig, SEQ - - GSD - - - ? ? Japan - - - - - 1 Johan den Dunnen
-/? 2 c.655G>A r.(?) p.Glu219Lys - Parent #2 - benign g.4680521G>A g.4699875G>A - - PRNP_000038 - {PMID10889337:Muramoto 2000} - - Germline - - - - - DNA, protein PCRdig, SEQ - - GSD - - - ? ? Japan - - - - - 1 Johan den Dunnen
?/? 2 c.655G>A r.(?) p.(Glu219Lys) - Parent #1 - VUS g.4680521G>A g.4699875G>A - - PRNP_000038 - - - rs1800014 Unknown - - - - - DNA SEQ - - Healthy/Control - - - ? ? - (not applicable) - - - - - 1 Johan den Dunnen
-?/. - c.655G>A r.(?) p.(Glu219Lys) - Unknown - likely benign g.4680521G>A g.4699875G>A PRNP(NM_000311.3):c.655G>A (p.(Glu219Lys)), PRNP(NM_000311.4):c.655G>A (p.E219K) - PRNP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.655G>A r.(?) p.(Glu219Lys) - Unknown - likely benign g.4680521G>A g.4699875G>A PRNP(NM_000311.3):c.655G>A (p.(Glu219Lys)), PRNP(NM_000311.4):c.655G>A (p.E219K) - PRNP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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