Annotation Detail
Information
- Associated Genes
- SPINK1
- Associated Variants
-
SPINK1 p.Ser10ValfsTer6 (p.S10Vfs*6)
(
ENST00000296695.10,
ENST00000510027.2 )
SPINK1 p.Ser10ValfsTer6 (p.S10Vfs*6) ( ENST00000296695.10, ENST00000510027.2 ) - Associated Disease
- Hereditary pancreatitis
- Source Database
- ClinVar
- Description
- NM_001379610.1(SPINK1):c.27del (p.Ser10fs) AND Hereditary pancreatitis
- ClinVar Allele ID
- 45441
- ClinVar RefSeq Alternation Syntax
- NM_003122.5:c.27del
- ClinVar RefSeq Alternation Syntax
- NM_001379610.1:c.27del
- ClinVar RefSeq Alternation Syntax
- NM_001354966.2:c.27del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000030460
- ClinVar Disease
- Hereditary pancreatitis
- Observed Origin Sample
- germline
Drugs