Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Met129Val (p.M129V)
(
ENST00000379440.9,
ENST00000430350.2,
ENST00000457586.2,
ENST00000424424.2 )
PRNP p.Asp178Asn (p.D178N) ( ENST00000430350.2, ENST00000457586.2, ENST00000424424.2, ENST00000379440.9 )
PRNP p.Met129Val (p.M129V) ( ENST00000430350.2, ENST00000457586.2, ENST00000424424.2, ENST00000379440.9 )
PRNP p.Asp178Asn (p.D178N) ( ENST00000424424.2, ENST00000379440.9, ENST00000457586.2, ENST00000430350.2 ) - Associated Disease
- Inherited Creutzfeldt-Jakob disease
- Source Database
- ClinVar
- Description
- NM_000311.4(PRNP):c.[385A>G;532G>A] AND Inherited Creutzfeldt-Jakob disease
- ClinVar Allele ID
- 28438
- ClinVar Allele ID
- 28436
- 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_001271561.3:c.*74A>G
- ClinVar RefSeq Alternation Syntax
- NM_001080122.3:c.532G>A
- ClinVar RefSeq Alternation Syntax
- NM_001080121.3:c.385A>G
- ClinVar RefSeq Alternation Syntax
- NM_000311.5:c.532G>A
- 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
- ClinVar RefSeq Alternation Syntax
- NM_001080121.3:c.532G>A
- ClinVar RefSeq Alternation Syntax
- NM_001271561.3:c.*221G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-11-26
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014336
- ClinVar Disease
- Inherited Creutzfeldt-Jakob disease
- Observed Origin Sample
- germline
- Pubmed
- 1671983
- Pubmed
- 16227536
- Pubmed
- 10581230
- Pubmed
- 9751723
- Pubmed
- 7709737
- Pubmed
- 19038218
- Pubmed
- 1684756
- Pubmed
- 1671440
- Pubmed
- 1353342
- Pubmed
- 1353341
- Pubmed
- 1469441
- Pubmed
- 12205650
Drugs