Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Phe198Ser (p.F198S)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Phe198Ser (p.F198S) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Gerstmann-Straussler-Scheinker syndrome
- Source Database
- ClinVar
- Description
- NM_000311.5(PRNP):c.593T>C (p.Phe198Ser) AND Gerstmann-Straussler-Scheinker syndrome
- ClinVar Allele ID
- 28440
- ClinVar RefSeq Alternation Syntax
- NM_001080123.3:c.593T>C
- ClinVar RefSeq Alternation Syntax
- NM_183079.4:c.593T>C
- ClinVar RefSeq Alternation Syntax
- NM_001271561.3:c.*282T>C
- ClinVar RefSeq Alternation Syntax
- NM_001080121.3:c.593T>C
- ClinVar RefSeq Alternation Syntax
- NM_001080122.3:c.593T>C
- ClinVar RefSeq Alternation Syntax
- NM_000311.5:c.593T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-12-13
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014340
- ClinVar Disease
- Gerstmann-Straussler-Scheinker syndrome
- Observed Origin Sample
- germline
- Pubmed
- 1363810
- Pubmed
- 1357663
- Pubmed
- 12372829
- Pubmed
- 7954833
- Pubmed
- 1363809
- Pubmed
- 2812321
Drugs