NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Nov 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001857962.7
Allele description [Variation Report for NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe)]
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe)
Condition(s)
-
hypothetical protein LOC84291 [Homo sapiens]
hypothetical protein LOC84291 [Homo sapiens]gi|14150112|ref|NP_115707.1|Protein
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Last Updated: Sep 29, 2024