Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Pro102Leu (p.P102L)
(
ENST00000457586.2,
ENST00000430350.2,
ENST00000379440.9,
ENST00000424424.2 )
PRNP p.Pro102Leu (p.P102L) ( ENST00000379440.9, ENST00000457586.2, ENST00000430350.2, ENST00000424424.2 ) - Associated Disease
- Inherited Creutzfeldt-Jakob disease
- Source Database
- ClinVar
- Description
- NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) AND Inherited Creutzfeldt-Jakob disease
- ClinVar Allele ID
- 28434
- ClinVar RefSeq Alternation Syntax
- NM_001080123.3:c.305C>T
- ClinVar RefSeq Alternation Syntax
- NM_001080122.3:c.305C>T
- ClinVar RefSeq Alternation Syntax
- NM_183079.4:c.305C>T
- ClinVar RefSeq Alternation Syntax
- NM_001271561.3:c.216C>T
- ClinVar RefSeq Alternation Syntax
- NM_001080121.3:c.305C>T
- ClinVar RefSeq Alternation Syntax
- NM_000311.5:c.305C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-05-04
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001813741
- ClinVar Disease
- Inherited Creutzfeldt-Jakob disease
- Observed Origin Sample
- germline
Drugs