Annotation Detail

Information

Associated Genes: PRNP
Associated Variants: PRNP p.Pro102Leu (p.P102L) ( ENST00000457586.2, ENST00000430350.2, ENST00000379440.9, ENST00000424424.2 )
PRNP p.Pro102Leu (p.P102L) ( ENST00000379440.9, ENST00000457586.2, ENST00000430350.2, ENST00000424424.2 )
Associated Disease: Gerstmann-Straussler-Scheinker syndrome
Source Database: ClinVar
Description: NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) AND Gerstmann-Straussler-Scheinker syndrome
ClinVar Allele ID: 28434
ClinVar RefSeq Alternation Syntax: NM_001080123.3:c.305C>T
ClinVar RefSeq Alternation Syntax: NM_001080122.3:c.305C>T
ClinVar RefSeq Alternation Syntax: NM_183079.4:c.305C>T
ClinVar RefSeq Alternation Syntax: NM_001271561.3:c.216C>T
ClinVar RefSeq Alternation Syntax: NM_001080121.3:c.305C>T
ClinVar RefSeq Alternation Syntax: NM_000311.5:c.305C>T
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2002-07-05
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000014329
ClinVar Disease: Gerstmann-Straussler-Scheinker syndrome
Observed Origin Sample: germline
Pubmed: 13171903
Pubmed: 11967261
Pubmed: 2572450
Pubmed: 1674033
Pubmed: 9653185
Pubmed: 7902971
Pubmed: 1672296
Pubmed: 2564168
Pubmed: 2190844
Pubmed: 2180366
Pubmed: 2783132

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