Annotation Detail
Information
- Associated Genes
- SIM1 SIM1-AS1
- Associated Variants
-
SIM1 p.Pro352Thr (p.P352T)
(
ENST00000262901.4,
ENST00000369208.8 )
SIM1 p.Pro352Thr (p.P352T) ( ENST00000262901.4, ENST00000369208.8 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_005068.3(SIM1):c.1054C>A (p.Pro352Thr) AND not provided
- ClinVar Allele ID
- 298443
- ClinVar RefSeq Alternation Syntax
- NM_001374769.1:c.1054C>A
- ClinVar RefSeq Alternation Syntax
- NM_005068.3:c.1054C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001712157
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs