Annotation Detail
Information
- Associated Genes
- AXIN2
- Associated Variants
-
AXIN2 p.Pro50Ser (p.P50S)
(
ENST00000618960.4,
ENST00000375702.5,
ENST00000307078.10 )
AXIN2 p.Pro50Ser (p.P50S) ( ENST00000307078.10, ENST00000375702.5, ENST00000618960.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004655.4(AXIN2):c.148C>T (p.Pro50Ser) AND not provided
- ClinVar Allele ID
- 256357
- ClinVar RefSeq Alternation Syntax
- NM_004655.4:c.148C>T
- ClinVar RefSeq Alternation Syntax
- NM_001363813.1:c.148C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-11-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000586407
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs