Full data view for gene PRNP

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     

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.385A>G r.(?) p.(Met129Val) - Paternal (inferred) - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID07501157:Mastrianni 1995} - - Germline - - - - - DNA PCRdig, SEQ - - GSD - - 5-generation family, 11 affecteds ? ? United States - - - - - 11 Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - Maternal (confirmed) - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID07501157:Mastrianni 1995} - - Germline - - - - - DNA PCRdig, SEQ - - GSD - - 5-generation family, 11 affecteds ? ? United States - - - - - 11 Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - Parent #1 - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID08461023:Kitamoto 1993} - - Germline - - - - - DNA PCRdig, SEQ - - GSD - - - ? ? Japan - - - - - 1 Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - Parent #1 - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID08461023:Kitamoto 1993} - - Germline - - - - - DNA PCRdig, SEQ - - GSD - - - ? ? Japan - - - - - 1 Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - Parent #1 - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID08461023:Kitamoto 1993} - - Germline - - - - - DNA PCRdig, SEQ - - GSD - - - ? ? Japan - - - - - 1 Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - Parent #1 - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID07916191:Ghetti 1994} - - Germline - - - - - DNA PCRdig, SEQ - - GSD - - large multi-generation family ? ? United States - - - - - 1 Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - Parent #1 - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID07916191:Ghetti 1994} - - Germline - - - - - DNA PCRdig, SEQ - - GSD - - large multi-generation family ? ? United States - - - - - 1 Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - Parent #1 - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID07783865:Reder 1995} - - Germline - - - - - DNA PCRdig, SEQ - - FFI - - - ? ? United States - - - - - 1 Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - Maternal (confirmed) - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID07783865:Reder 1995} - - Germline - - - - - DNA PCRdig, SEQ - - FFI - - - ? ? United States - - - - - 1 Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - Parent #1 - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID08030960:Masullo 1994} - - Germline - - - - - DNA PCRdig, SEQ - - DEM - - - ? ? Italy - - - - - 1 Johan den Dunnen
-?/? 2 c.385A>G r.(?) p.(Met129Val) - Parent #2 - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID08030960:Masullo 1994} - - Germline - - - - - DNA PCRdig, SEQ - - DEM - - - ? ? Italy - - - - - 1 Johan den Dunnen
-/? 2 c.385A>G r.(?) p.(Met129Val) - Parent #1 - benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID10408557:Yamada 1993} - - Germline - - - - - DNA PCRdig, SEQ - - DEM - - 3-generation family, 2 affected brothers ? ? Japan - - - - - 2 Johan den Dunnen
-/? 2 c.385A>G r.(?) p.(Met129Val) - Unknown - benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID07902693:Pocchiari 1993} - - Germline - - - - - DNA PCRdig, SEQ - - CJD - - - ? ? Italy - - - - - 1 Johan den Dunnen
-/? 2 c.385A>G r.(?) p.(Met129Val) - Parent #2 - benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID07902693:Pocchiari 1993} - - Germline - - - - - DNA PCRdig, SEQ - - CJD - - - ? ? Italy - - - - - 1 Johan den Dunnen
-/? 2 c.385A>G r.(?) p.(Met129Val) - Parent #1 - benign g.4680251A>G g.4699605A>G - - PRNP_000023 - {PMID10581230:Laplanche 1999} - - Germline - - - - - DNA PCR, SEQ - - GSD - - 5-generation family, 11 affecteds ? ? France - - - - - 11 Johan den Dunnen
?/? 2 c.385A>G r.(?) p.(Met129Val) - Parent #1 - VUS g.4680251A>G g.4699605A>G - - PRNP_000023 - - - rs1799990 Unknown - - - - - DNA SEQ - - Healthy/Control - - - ? ? - (not applicable) - - - - - 1 Johan den Dunnen
-?/. 2 c.385A>G r.(?) p.(Met129Val) - Unknown - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - PubMed: Beck 2010 - - Unknown ? - - 0 - DNA SEQ - - CJD - PubMed: Beck 2010 - M ? India Inida, south >75y 0 - - 1 Johan den Dunnen
-?/. 2 c.385A>G r.(?) p.(Met129Val) - Unknown - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - PubMed: Beck 2010 - - Unknown ? - - 0 - DNA SEQ - - PRND - PubMed: Beck 2010 - F ? Jamaica - - 0 - - 1 Johan den Dunnen
-?/. 2 c.385A>G r.(?) p.(Met129Val) - Both (homozygous) - likely benign g.4680251A>G g.4699605A>G - - PRNP_000023 - PubMed: Beck 2010 - - Germline ? - - 0 - DNA SEQ - - PRND - PubMed: Beck 2010 - F ? United Kingdom (Great Britain) - >43y 0 - - 1 Johan den Dunnen
-/. - c.385A>G r.(?) p.(Met129Val) - Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.385A>G r.(?) p.(Met129Val) - Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.385A>G r.(?) p.(Met129Val) - Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.385A>G r.(?) p.(Met129Val) - Unknown - 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 - - - - - - - - - - - - - - - - - - -
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