Annotation Detail

Information

Associated Genes: PRNP
Associated Variants: PRNP p.Glu200Lys (p.E200K) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Glu200Lys (p.E200K) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
Associated Disease: fatal familial insomnia
Source Database: ClinVar
Description: NM_000311.5(PRNP):c.598G>A (p.Glu200Lys) AND Fatal familial insomnia
ClinVar Allele ID: 28437
ClinVar RefSeq Alternation Syntax: NM_001080121.3:c.598G>A
ClinVar RefSeq Alternation Syntax: NM_001080122.3:c.598G>A
ClinVar RefSeq Alternation Syntax: NM_001271561.3:c.*287G>A
ClinVar RefSeq Alternation Syntax: NM_001080123.3:c.598G>A
ClinVar RefSeq Alternation Syntax: NM_183079.4:c.598G>A
ClinVar RefSeq Alternation Syntax: NM_000311.5:c.598G>A
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2014-10-02
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000014335
ClinVar Disease: Fatal familial insomnia
Observed Origin Sample: germline
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Pubmed: 8618678

Drugs