Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Asp178Asn (p.D178N)
(
ENST00000430350.2,
ENST00000457586.2,
ENST00000424424.2,
ENST00000379440.9 )
PRNP p.Asp178Asn (p.D178N) ( ENST00000424424.2, ENST00000379440.9, ENST00000457586.2, ENST00000430350.2 ) - Associated Disease
- fatal familial insomnia
- Source Database
- ClinVar
- Description
- NM_000311.5(PRNP):c.532G>A (p.Asp178Asn) AND Fatal familial insomnia
- ClinVar Allele ID
- 28438
- ClinVar RefSeq Alternation Syntax
- NM_001080123.3:c.532G>A
- ClinVar RefSeq Alternation Syntax
- NM_183079.4:c.532G>A
- ClinVar RefSeq Alternation Syntax
- NM_001080122.3:c.532G>A
- ClinVar RefSeq Alternation Syntax
- NM_000311.5:c.532G>A
- ClinVar RefSeq Alternation Syntax
- NM_001080121.3:c.532G>A
- ClinVar RefSeq Alternation Syntax
- NM_001271561.3:c.*221G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000020248
- ClinVar Disease
- Fatal familial insomnia
- Observed Origin Sample
- germline
Drugs