Annotation Detail
Information
- Associated Genes
- SPINK1
- Associated Variants
-
SPINK1 p.Tyr54His (p.Y54H)
(
ENST00000296695.10,
ENST00000510027.2 )
SPINK1 p.Tyr54His (p.Y54H) ( ENST00000296695.10, ENST00000510027.2 ) - Associated Disease
- Hereditary pancreatitis
- Source Database
- ClinVar
- Description
- NM_001379610.1(SPINK1):c.160T>C (p.Tyr54His) AND Hereditary pancreatitis
- ClinVar Allele ID
- 136366
- ClinVar RefSeq Alternation Syntax
- NM_001379610.1:c.160T>C
- ClinVar RefSeq Alternation Syntax
- NM_003122.5:c.160T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354966.2:c.160T>C
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000119033
- ClinVar Disease
- Hereditary pancreatitis
- Observed Origin Sample
- germline
Drugs