NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Feb 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001181857.6
Allele description [Variation Report for NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)]
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
Condition(s)
-
FN806836 Homo sapiens seminoma (Mayer-2011) Homo sapiens cDNA clone HERVK_cDNA_c...
FN806836 Homo sapiens seminoma (Mayer-2011) Homo sapiens cDNA clone HERVK_cDNA_clone_109, mRNA sequencegi|331748506|gnl|dbEST|74112945|emb 6836.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024