Annotation Detail

Information
Associated Genes
PRSS1 TRB
Associated Variants
PRSS1 p.Asp162= (p.D162=) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
PRSS1 p.Asp162= (p.D162=) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_002769.5(PRSS1):c.486T>C (p.Asp162=) AND not specified
ClinVar Allele ID
239989
ClinVar RefSeq Alternation Syntax
NM_002769.5:c.486T>C
Clinical Significance Description
Benign/Likely benign
Clinical Significance Last Update
2021-04-21
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000244488
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs