Annotation Detail

Information
Associated Genes
PRSS1 TRB
Associated Variants
PRSS1 p.Ala16Val (p.A16V) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Ala16Val (p.A16V) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
Source Database
ClinVar
Description
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) AND Recurrent pancreatitis
ClinVar Allele ID
46925
ClinVar RefSeq Alternation Syntax
NM_002769.5:c.47C>T
Clinical Significance Description
no classifications from unflagged records
Clinical Significance Last Update
2023-12-07
Clinical Significance Review Status
no classifications from unflagged records
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000626826
Observed Origin Sample
unknown
Drugs