Annotation Detail
Information
- Associated Genes
- ACE
- Associated Variants
-
ENSG00000264813 p.Thr342Met (p.T342M), ACE p.Thr916Met (p.T916M)
(
ENST00000290866.10,
ENST00000428043.5,
ENST00000413513.7,
ENST00000290863.10 )
ENSG00000264813 p.Thr342Met (p.T342M), ACE p.Thr916Met (p.T916M) ( ENST00000290863.10, ENST00000290866.10, ENST00000413513.7, ENST00000428043.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000789.4(ACE):c.2747C>T (p.Thr916Met) AND not provided
- ClinVar Allele ID
- 704279
- ClinVar RefSeq Alternation Syntax
- NM_000789.4:c.2747C>T
- ClinVar RefSeq Alternation Syntax
- NM_152830.3:c.1025C>T
- ClinVar RefSeq Alternation Syntax
- NM_001178057.2:c.1025C>T
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2024-03-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000949601
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs