Annotation Detail
Information
- Associated Genes
- ACE
- Associated Variants
-
ENSG00000264813 p.Thr202= (p.T202=), ACE p.Thr776= (p.T776=)
(
ENST00000290863.10,
ENST00000413513.7,
ENST00000290866.10,
ENST00000428043.5 )
ENSG00000264813 p.Thr202= (p.T202=), ACE p.Thr776= (p.T776=) ( ENST00000290863.10, ENST00000290866.10, ENST00000413513.7, ENST00000428043.5 ) - Associated Disease
- Myocardial infarction, susceptibility to
- Source Database
- ClinVar
- Description
- NM_000789.4(ACE):c.2328G>A (p.Thr776=) AND Myocardial infarction, susceptibility to
- ClinVar Allele ID
- 256309
- ClinVar RefSeq Alternation Syntax
- NM_000789.4:c.2328G>A
- ClinVar RefSeq Alternation Syntax
- NM_152830.3:c.606G>A
- ClinVar RefSeq Alternation Syntax
- NM_001178057.2:c.606G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-10-11
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002259329
- ClinVar Disease
- Myocardial infarction, susceptibility to
- Observed Origin Sample
- unknown
Drugs