NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 12, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002352435.4
Allele description [Variation Report for NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn)]
NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn)
Condition(s)
-
protein-lysine N-methyltransferase [Saccharomyces cerevisiae S288C]
protein-lysine N-methyltransferase [Saccharomyces cerevisiae S288C]gi|6321748|ref|NP_011824.1|Protein
-
Chain B, Protein CBFA2T1
Chain B, Protein CBFA2T1gi|514829929|pdb|4JOL|BProtein
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Last Updated: Aug 18, 2024