Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Glu219Lys (p.E219K)
(
ENST00000430350.2,
ENST00000457586.2,
ENST00000424424.2,
ENST00000379440.9 )
PRNP p.Glu219Lys (p.E219K) ( ENST00000424424.2, ENST00000379440.9, ENST00000457586.2, ENST00000430350.2 ) - Associated Disease
- Protection against Creutzfeldt-Jakob disease
- Source Database
- ClinVar
- Description
- NM_000311.5(PRNP):c.655G>A (p.Glu219Lys) AND Protection against Creutzfeldt-Jakob disease
- ClinVar Allele ID
- 28448
- ClinVar RefSeq Alternation Syntax
- NM_001080122.3:c.655G>A
- ClinVar RefSeq Alternation Syntax
- NM_001080121.3:c.655G>A
- ClinVar RefSeq Alternation Syntax
- NM_183079.4:c.655G>A
- ClinVar RefSeq Alternation Syntax
- NM_001080123.3:c.655G>A
- ClinVar RefSeq Alternation Syntax
- NM_000311.5:c.655G>A
- ClinVar RefSeq Alternation Syntax
- NM_001271561.3:c.*344G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2012-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014350
- ClinVar Disease
- Protection against Creutzfeldt-Jakob disease
- Observed Origin Sample
- germline
- Pubmed
- 22108575
- Pubmed
- 20697057
- Pubmed
- 12815603
- Pubmed
- 16217673
- Pubmed
- 9482303
- Pubmed
- 15557533
Drugs