Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Met232Arg (p.M232R)
(
ENST00000424424.2,
ENST00000379440.9,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Met232Arg (p.M232R) ( ENST00000430350.2, ENST00000379440.9, ENST00000424424.2, ENST00000457586.2 ) - Associated Disease
- Kuru, susceptibility to Huntington disease-like 1 fatal familial insomnia Gerstmann-Straussler-Scheinker syndrome Inherited Creutzfeldt-Jakob disease Spongiform encephalopathy with neuropsychiatric features
- Source Database
- ClinVar
- Description
- NM_000311.5(PRNP):c.695T>G (p.Met232Arg) AND multiple conditions
- ClinVar Allele ID
- 28445
- ClinVar RefSeq Alternation Syntax
- NM_001080122.3:c.695T>G
- ClinVar RefSeq Alternation Syntax
- NM_001080121.3:c.695T>G
- ClinVar RefSeq Alternation Syntax
- NM_183079.4:c.695T>G
- ClinVar RefSeq Alternation Syntax
- NM_001080123.3:c.695T>G
- ClinVar RefSeq Alternation Syntax
- NM_000311.5:c.695T>G
- ClinVar RefSeq Alternation Syntax
- NM_001271561.3:c.*384T>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-12-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002496357
- 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