NM_000138.5(FBN1):c.282T>C (p.Cys94=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002435115.2
Allele description [Variation Report for NM_000138.5(FBN1):c.282T>C (p.Cys94=)]
NM_000138.5(FBN1):c.282T>C (p.Cys94=)
Condition(s)
-
zinc finger protein 202 isoform 1 [Homo sapiens]
zinc finger protein 202 isoform 1 [Homo sapiens]gi|685424580|ref|NP_001288708.1|Protein
-
Homo sapiens angiopoietin-like 5, mRNA (cDNA clone MGC:57467 IMAGE:5285447), com...
Homo sapiens angiopoietin-like 5, mRNA (cDNA clone MGC:57467 IMAGE:5285447), complete cdsgi|29351675|gb|BC049170.1|Nucleotide
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Last Updated: May 1, 2024