NM_001613.4(ACTA2):c.903A>G (p.Leu301=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (3 submissions)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001189984.7
Allele description [Variation Report for NM_001613.4(ACTA2):c.903A>G (p.Leu301=)]
NM_001613.4(ACTA2):c.903A>G (p.Leu301=)
Condition(s)
-
Homo sapiens SH3 domain binding protein 1 (SH3BP1), transcript variant 1, mRNA
Homo sapiens SH3 domain binding protein 1 (SH3BP1), transcript variant 1, mRNAgi|1805644760|ref|NM_018957.6|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024