Annotation Detail
Information
- Associated Genes
- SPINK1
- Associated Variants
-
SPINK1 p.Asn34Ser (p.N34S)
(
ENST00000510027.2,
ENST00000296695.10 )
SPINK1 p.Asn34Ser (p.N34S) ( ENST00000296695.10, ENST00000510027.2 ) - Associated Disease
- Tropical pancreatitis
- Source Database
- ClinVar
- Description
- NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) AND Tropical pancreatitis
- ClinVar Allele ID
- 28799
- ClinVar RefSeq Alternation Syntax
- NM_001379610.1:c.101A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354966.2:c.101A>G
- ClinVar RefSeq Alternation Syntax
- NM_003122.5:c.101A>G
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-09-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002283443
- ClinVar Disease
- Tropical pancreatitis
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs