Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Val180Ile (p.V180I)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Val180Ile (p.V180I) ( ENST00000457586.2, ENST00000430350.2, ENST00000379440.9, ENST00000424424.2 ) - Associated Disease
- fatal familial insomnia Gerstmann-Straussler-Scheinker syndrome Spongiform encephalopathy with neuropsychiatric features Huntington disease-like 1 Inherited Creutzfeldt-Jakob disease Kuru, susceptibility to
- Source Database
- ClinVar
- Description
- NM_000311.5(PRNP):c.538G>A (p.Val180Ile) AND multiple conditions
- ClinVar Allele ID
- 28444
- ClinVar RefSeq Alternation Syntax
- NM_183079.4:c.538G>A
- ClinVar RefSeq Alternation Syntax
- NM_001080123.3:c.538G>A
- ClinVar RefSeq Alternation Syntax
- NM_001271561.3:c.*227G>A
- ClinVar RefSeq Alternation Syntax
- NM_000311.5:c.538G>A
- ClinVar RefSeq Alternation Syntax
- NM_001080122.3:c.538G>A
- ClinVar RefSeq Alternation Syntax
- NM_001080121.3:c.538G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-11-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002476963
- ClinVar Disease
- Kuru, susceptibility to
- ClinVar Disease
- Spongiform encephalopathy with neuropsychiatric features
- ClinVar Disease
- Gerstmann-Straussler-Scheinker syndrome
- ClinVar Disease
- Fatal familial insomnia
- ClinVar Disease
- Huntington disease-like 1
- ClinVar Disease
- Inherited Creutzfeldt-Jakob disease
- Observed Origin Sample
- unknown
Drugs