Annotation Detail
Information
- Associated Genes
- ACTA2 FAS LOC130004293
- Associated Variants
-
ACTA2 c.-24+1440C>T
(
ENST00000458159.6,
ENST00000713602.1,
ENST00000415557.2 )
ACTA2 c.-24+1440C>T ( ENST00000415557.2, ENST00000458159.6, ENST00000713602.1, ENST00000690268.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001141945.3(ACTA2):c.-24+1440C>T AND not specified
- ClinVar Allele ID
- 31556
- ClinVar RefSeq Alternation Syntax
- NM_001406462.1:c.-182+1523C>T
- ClinVar RefSeq Alternation Syntax
- NM_001141945.3:c.-24+1440C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406471.1:c.-24+1440C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406467.1:c.-24+1523C>T
- ClinVar RefSeq Alternation Syntax
- NM_001320855.2:c.-24+1523C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406463.1:c.-182+1440C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406468.1:c.-24+1440C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003488343
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs