NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002310993.8
Allele description
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
Condition(s)
-
putative major tail protein [Leuconostoc phage 974]
putative major tail protein [Leuconostoc phage 974]gi|1036211150|emb|SBN37643.1|Protein
-
Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndromeMedGen
-
C0265306[conceptid] (1)
MedGen
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Apr 20, 2024