Full data view for gene PRNP

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     

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.372C>G r.(?) p.(=) - Parent #2 - benign g.4680238C>G g.4699592C>G - - PRNP_000022 - {PMID07916191:Ghetti 1994} - - Germline - - - - - DNA PCRdig, SEQ - - GSD - - large multi-generation family ? ? United States - - - - - 1 Johan den Dunnen
-/? 2 c.372C>G r.(?) p.(=) - Parent #1 - benign g.4680238C>G g.4699592C>G 421C>G (G124G) - PRNP_000022 - {PMID10790216:Peoc'h 2000} - - Germline - - EcoO109I- - - DNA PCRdig, SEQ - - CJD - - patient and affected carrier brother ? ? Italy - - - - - 2 Johan den Dunnen
-?/. - c.372C>G r.(?) p.(Gly124=) - Unknown - likely benign g.4680238C>G - PRNP(NM_000311.4):c.372C>G (p.G124=) - PRNP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.372C>G r.(?) p.(Gly124=) - Unknown - likely benign g.4680238C>G - PRNP(NM_000311.4):c.372C>G (p.G124=) - PRNP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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