Annotation Detail
Information
- Associated Genes
- FTL GYS1
- Associated Variants
-
FTL p.Leu55= (p.L55=)
(
ENST00000331825.11 )
FTL p.Leu55= (p.L55=) ( ENST00000331825.11 ) - Associated Disease
- sporadic abdominal aortic aneurysm
- Source Database
- ClinVar
- Description
- NM_000146.4(FTL):c.163T>C (p.Leu55=) AND sporadic abdominal aortic aneurysm
- ClinVar Allele ID
- 166213
- ClinVar RefSeq Alternation Syntax
- NM_000146.4:c.163T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2014-09-21
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000144503
- ClinVar Disease
- sporadic abdominal aortic aneurysm
- Observed Origin Sample
- unknown
Drugs