Annotation Detail
Information
- Associated Genes
- SPINK1
- Associated Variants
-
SPINK1 c.194+2T>C
(
ENST00000296695.10,
ENST00000510027.2 )
SPINK1 c.194+2T>C ( ENST00000296695.10, ENST00000510027.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001379610.1(SPINK1):c.194+2T>C AND not provided
- ClinVar Allele ID
- 136364
- ClinVar RefSeq Alternation Syntax
- NM_001379610.1:c.194+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_003122.5:c.194+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354966.2:c.194+2T>C
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-04-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001529765
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs