NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer) AND Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 16, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001193501.1
Allele description [Variation Report for NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer)]
NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer)
Condition(s)
- Name:
- Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
- Identifiers:
- MedGen: CN229799
-
AL885529 XGC-egg Xenopus tropicalis cDNA clone TEgg013k08 3', mRNA sequence
AL885529 XGC-egg Xenopus tropicalis cDNA clone TEgg013k08 3', mRNA sequencegi|38676639|gnl|dbEST|20706814|emb| 529.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024