NM_000138.5(FBN1):c.1513A>G (p.Ile505Val) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 27, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001181488.2
Allele description [Variation Report for NM_000138.5(FBN1):c.1513A>G (p.Ile505Val)]
NM_000138.5(FBN1):c.1513A>G (p.Ile505Val)
Condition(s)
-
Homo sapiens mRNA; cDNA DKFZp451I213 (from clone DKFZp451I213)
Homo sapiens mRNA; cDNA DKFZp451I213 (from clone DKFZp451I213)gi|21732530|emb|AL831991.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024