Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Met129Val (p.M129V)
(
ENST00000379440.9,
ENST00000430350.2,
ENST00000457586.2,
ENST00000424424.2 )
PRNP p.Met129Val (p.M129V) ( ENST00000430350.2, ENST00000457586.2, ENST00000424424.2, ENST00000379440.9 ) - Associated Disease
- fatal familial insomnia
- Source Database
- ClinVar
- Description
- NM_000311.5(PRNP):c.385A>G (p.Met129Val) AND Fatal familial insomnia
- ClinVar Allele ID
- 28436
- ClinVar RefSeq Alternation Syntax
- NM_001271561.3:c.*74A>G
- ClinVar RefSeq Alternation Syntax
- NM_001080121.3:c.385A>G
- ClinVar RefSeq Alternation Syntax
- NM_001080122.3:c.385A>G
- ClinVar RefSeq Alternation Syntax
- NM_000311.5:c.385A>G
- ClinVar RefSeq Alternation Syntax
- NM_001080123.3:c.385A>G
- ClinVar RefSeq Alternation Syntax
- NM_183079.4:c.385A>G
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003450639
- ClinVar Disease
- Fatal familial insomnia
- Observed Origin Sample
- germline
Drugs