NM_000138.5(FBN1):c.5817G>A (p.Gly1939=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 27, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003528212.1
Allele description [Variation Report for NM_000138.5(FBN1):c.5817G>A (p.Gly1939=)]
NM_000138.5(FBN1):c.5817G>A (p.Gly1939=)
Condition(s)
-
estrogen-related receptor gamma isoform 2 [Homo sapiens]
estrogen-related receptor gamma isoform 2 [Homo sapiens]gi|45545427|ref|NP_996317.1|Protein
-
MPI [Nothoprocta perdicaria]
MPI [Nothoprocta perdicaria]Gene ID:112959092Gene
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Last Updated: May 7, 2024