Annotation Detail
Information
- Associated Genes
- ACE
- Associated Variants
-
ENSG00000264813 p.Phe555= (p.F555=), ACE p.Phe1129= (p.F1129=)
(
ENST00000290866.10,
ENST00000428043.5,
ENST00000413513.7,
ENST00000290863.10 )
ENSG00000264813 p.Phe555= (p.F555=), ACE p.Phe1129= (p.F1129=) ( ENST00000290863.10, ENST00000290866.10, ENST00000413513.7, ENST00000428043.5 ) - Associated Disease
- Hemorrhage, intracerebral, susceptibility to Renal tubular dysgenesis of genetic origin Microvascular complications of diabetes, susceptibility to, 3
- Source Database
- ClinVar
- Description
- NM_000789.4(ACE):c.3387T>C (p.Phe1129=) AND multiple conditions
- ClinVar Allele ID
- 256310
- ClinVar RefSeq Alternation Syntax
- NM_152830.3:c.1665T>C
- ClinVar RefSeq Alternation Syntax
- NM_000789.4:c.3387T>C
- ClinVar RefSeq Alternation Syntax
- NM_001178057.2:c.1659-398T>C
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2021-11-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002500868
- ClinVar Disease
- Hemorrhage, intracerebral, susceptibility to
- ClinVar Disease
- Microvascular complications of diabetes, susceptibility to, 3
- ClinVar Disease
- Renal tubular dysgenesis of genetic origin
- Observed Origin Sample
- unknown
Drugs