NM_017617.5(NOTCH1):c.4974G>C (p.Glu1658Asp) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002342858.2
Allele description [Variation Report for NM_017617.5(NOTCH1):c.4974G>C (p.Glu1658Asp)]
NM_017617.5(NOTCH1):c.4974G>C (p.Glu1658Asp)
Condition(s)
-
serine/threonine-protein kinase PLK4 isoform X2 [Homo sapiens]
serine/threonine-protein kinase PLK4 isoform X2 [Homo sapiens]gi|1034638167|ref|XP_016863152.1|Protein
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Last Updated: May 7, 2024