Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Arg627Trp (p.R627W)
(
ENST00000442287.6,
ENST00000268124.11,
ENST00000636937.2 )
POLG p.Arg627Trp (p.R627W) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
- Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.1879C>T (p.Arg627Trp) AND Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
- ClinVar Allele ID
- 28538
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.1879C>T
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.1879C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-03-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004525852
- ClinVar Disease
- Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
- Observed Origin Sample
- germline
Drugs