Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Arg208His (p.R208H)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Arg208His (p.R208H) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Inherited Creutzfeldt-Jakob disease
- Source Database
- ClinVar
- Description
- NM_000311.5(PRNP):c.623G>A (p.Arg208His) AND Inherited Creutzfeldt-Jakob disease
- ClinVar Allele ID
- 28450
- ClinVar RefSeq Alternation Syntax
- NM_000311.5:c.623G>A
- ClinVar RefSeq Alternation Syntax
- NM_001080122.3:c.623G>A
- ClinVar RefSeq Alternation Syntax
- NM_001080121.3:c.623G>A
- ClinVar RefSeq Alternation Syntax
- NM_001271561.3:c.*312G>A
- ClinVar RefSeq Alternation Syntax
- NM_001080123.3:c.623G>A
- ClinVar RefSeq Alternation Syntax
- NM_183079.4:c.623G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2006-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014352
- ClinVar Disease
- Inherited Creutzfeldt-Jakob disease
- Observed Origin Sample
- germline
- Pubmed
- 15753435
- Pubmed
- 16533975
- Pubmed
- 26791950
- Pubmed
- 8909447
Drugs