Annotation Detail
Information
- Associated Genes
- SIM1 SIM1-AS1
- Associated Variants
-
SIM1 p.Pro352Ser (p.P352S)
(
ENST00000262901.4,
ENST00000369208.8 )
SIM1 p.Pro352Ser (p.P352S) ( ENST00000262901.4, ENST00000369208.8 ) - Associated Disease
- SIM1-related disorder
- Source Database
- ClinVar
- Description
- NM_005068.3(SIM1):c.1054C>T (p.Pro352Ser) AND SIM1-related disorder
- ClinVar Allele ID
- 895057
- ClinVar RefSeq Alternation Syntax
- NM_005068.3:c.1054C>T
- ClinVar RefSeq Alternation Syntax
- NM_001374769.1:c.1054C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-12-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004548032
- ClinVar Disease
- SIM1-related disorder
- Observed Origin Sample
- germline
Drugs