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: Prion disease, susceptibility to
Source Database: ClinVar
Description: NM_000311.5(PRNP):c.385A>G (p.Met129Val) AND Prion disease, susceptibility to
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: risk factor
Clinical Significance Last Update: 2009-11-19
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000014331
ClinVar Disease: Prion disease, susceptibility to
Observed Origin Sample: germline
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