Annotation Detail

Information
Associated Genes
PRSS1 TRB
Associated Variants
PRSS1 p.Ala121Thr (p.A121T) ( ENST00000492062.2, ENST00000311737.12, ENST00000486171.5 )
PRSS1 p.Ala121Thr (p.A121T) ( ENST00000311737.12, ENST00000486171.5, ENST00000492062.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr) AND not provided
ClinVar Allele ID
26924
ClinVar RefSeq Alternation Syntax
NM_002769.5:c.361G>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2020-02-10
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001753414
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs