NM_000093.5(COL5A1):c.5349C>T (p.Arg1783=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002343235.9
Allele description [Variation Report for NM_000093.5(COL5A1):c.5349C>T (p.Arg1783=)]
NM_000093.5(COL5A1):c.5349C>T (p.Arg1783=)
Condition(s)
-
Drosophila melanogaster uncharacterized protein (CG9377), mRNA
Drosophila melanogaster uncharacterized protein (CG9377), mRNAgi|665407845|ref|NM_135796.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024