Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Gln217Arg (p.Q217R)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Gln217Arg (p.Q217R) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Gerstmann-Straussler-Scheinker syndrome
- Source Database
- ClinVar
- Description
- NM_000311.5(PRNP):c.650A>G (p.Gln217Arg) AND Gerstmann-Straussler-Scheinker syndrome
- ClinVar Allele ID
- 28441
- ClinVar RefSeq Alternation Syntax
- NM_000311.5:c.650A>G
- ClinVar RefSeq Alternation Syntax
- NM_001080121.3:c.650A>G
- ClinVar RefSeq Alternation Syntax
- NM_001080122.3:c.650A>G
- ClinVar RefSeq Alternation Syntax
- NM_001080123.3:c.650A>G
- ClinVar RefSeq Alternation Syntax
- NM_001271561.3:c.*339A>G
- ClinVar RefSeq Alternation Syntax
- NM_183079.4:c.650A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1992-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014341
- ClinVar Disease
- Gerstmann-Straussler-Scheinker syndrome
- Observed Origin Sample
- germline
- Pubmed
- 1363810
Drugs