Annotation Detail
Information
- Associated Genes
- SPINK1
- Associated Variants
-
SPINK1 p.Arg67Cys (p.R67C)
(
ENST00000296695.10 )
SPINK1 p.Arg67Cys (p.R67C) ( ENST00000296695.10 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys) AND not specified
- ClinVar Allele ID
- 136367
- ClinVar RefSeq Alternation Syntax
- NM_001379610.1:c.199C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354966.2:c.199C>T
- ClinVar RefSeq Alternation Syntax
- NM_003122.5:c.199C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-05-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003235045
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs