NM_000138.5(FBN1):c.4050C>T (p.Cys1350=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 17, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002321286.2
Allele description [Variation Report for NM_000138.5(FBN1):c.4050C>T (p.Cys1350=)]
NM_000138.5(FBN1):c.4050C>T (p.Cys1350=)
Condition(s)
-
RAB3A interacting protein, isoform CRA_a [Rattus norvegicus]
RAB3A interacting protein, isoform CRA_a [Rattus norvegicus]gi|149066913|gb|EDM16646.1||gnl|WGS |rCP38862Protein
-
LOC4343248 [Oryza sativa Japonica Group]
LOC4343248 [Oryza sativa Japonica Group]Gene ID:4343248Gene
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See more...Assertion and evidence details
Last Updated: May 1, 2024