Annotation Detail
Information
- Associated Genes
- ACE LOC130061383
- Associated Variants
-
ACE p.Ala77= (p.A77=)
(
ENST00000428043.5,
ENST00000290866.10 )
ACE p.Ala77= (p.A77=) ( ENST00000290866.10, ENST00000428043.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000789.4(ACE):c.231G>T (p.Ala77=) AND not provided
- ClinVar Allele ID
- 1635725
- ClinVar RefSeq Alternation Syntax
- NM_000789.4:c.231G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382701.1:c.-384G>T
- ClinVar RefSeq Alternation Syntax
- NM_001382700.1:c.-5G>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2022-07-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002203651
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs