Annotation Detail
Information
- Associated Genes
- SPINK1
- Associated Variants
-
SPINK1 p.Pro55Ser (p.P55S)
(
ENST00000296695.10,
ENST00000510027.2 )
SPINK1 p.Pro55Ser (p.P55S) ( ENST00000296695.10, ENST00000510027.2 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) AND not specified
- ClinVar Allele ID
- 45439
- ClinVar RefSeq Alternation Syntax
- NM_001379610.1:c.163C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354966.2:c.163C>T
- ClinVar RefSeq Alternation Syntax
- NM_003122.5:c.163C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-08-15
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000248152
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs