Annotation Detail
Information
- Associated Genes
- ACE
- Associated Variants
-
ACE c.1488-58T>C
(
ENST00000428043.5,
ENST00000290866.10 )
ACE c.1488-58T>C ( ENST00000290866.10, ENST00000428043.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000789.4(ACE):c.1488-58T>C AND not provided
- ClinVar Allele ID
- 1253826
- ClinVar RefSeq Alternation Syntax
- NM_000789.4:c.1488-58T>C
- ClinVar RefSeq Alternation Syntax
- NM_001382701.1:c.636-58T>C
- ClinVar RefSeq Alternation Syntax
- NM_001382700.1:c.921-58T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-11-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001674922
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs