NM_000138.5(FBN1):c.4161C>T (p.Tyr1387=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Aug 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002329638.3
Allele description [Variation Report for NM_000138.5(FBN1):c.4161C>T (p.Tyr1387=)]
NM_000138.5(FBN1):c.4161C>T (p.Tyr1387=)
Condition(s)
-
Sclerosis of 2nd finger phalanx
Sclerosis of 2nd finger phalanxMedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024