NM_000138.5(FBN1):c.4026A>G (p.Thr1342=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Mar 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001190514.4
Allele description [Variation Report for NM_000138.5(FBN1):c.4026A>G (p.Thr1342=)]
NM_000138.5(FBN1):c.4026A>G (p.Thr1342=)
Condition(s)
-
Ladigesocypris ghigii MHC class II antigen (Lagh-DAB1) gene, Lagh-DAB1*01 allele...
Ladigesocypris ghigii MHC class II antigen (Lagh-DAB1) gene, Lagh-DAB1*01 allele, exon 2 and partial cdsgi|308230395|gb|HM003405.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024