NM_000138.5(FBN1):c.4609G>T (p.Asp1537Tyr) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001186424.4
Allele description [Variation Report for NM_000138.5(FBN1):c.4609G>T (p.Asp1537Tyr)]
NM_000138.5(FBN1):c.4609G>T (p.Asp1537Tyr)
Condition(s)
-
ill health (261)
BioSample
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Last Updated: May 7, 2024