NM_000138.5(FBN1):c.4605T>G (p.Tyr1535Ter) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 14, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004520570.1
Allele description [Variation Report for NM_000138.5(FBN1):c.4605T>G (p.Tyr1535Ter)]
NM_000138.5(FBN1):c.4605T>G (p.Tyr1535Ter)
Condition(s)
-
Psoriasis 7, susceptibility to
Psoriasis 7, susceptibility toMedGen
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See more...Assertion and evidence details
Last Updated: May 7, 2024