Annotation Detail
Information
- Associated Genes
- ACTA2 FAS
- Associated Variants
-
ACTA2 c.-24+733T>C
(
ENST00000713602.1,
ENST00000458159.6,
ENST00000415557.2 )
ACTA2 c.-24+733T>C ( ENST00000415557.2, ENST00000458159.6, ENST00000713602.1, ENST00000690268.1 ) - Associated Disease
- Autoimmune lymphoproliferative syndrome type 1
- Source Database
- ClinVar
- Description
- NM_001141945.3(ACTA2):c.-24+733T>C AND Autoimmune lymphoproliferative syndrome type 1
- ClinVar Allele ID
- 712501
- ClinVar RefSeq Alternation Syntax
- NM_001320855.2:c.-24+816T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406467.1:c.-24+816T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406463.1:c.-182+733T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406468.1:c.-24+733T>C
- ClinVar RefSeq Alternation Syntax
- NM_001141945.3:c.-24+733T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406471.1:c.-24+733T>C
- ClinVar RefSeq Alternation Syntax
- NM_001406462.1:c.-182+816T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-12-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001515574
- ClinVar Disease
- Autoimmune lymphoproliferative syndrome type 1
- Observed Origin Sample
- germline
Drugs