NM_017617.5(NOTCH1):c.1338C>A (p.Gly446=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 19, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002387629.2
Allele description [Variation Report for NM_017617.5(NOTCH1):c.1338C>A (p.Gly446=)]
NM_017617.5(NOTCH1):c.1338C>A (p.Gly446=)
Condition(s)
-
unnamed protein product, partial [Homo sapiens]
unnamed protein product, partial [Homo sapiens]gi|14042758|dbj|BAB55383.1|Protein
-
OXSM [Opisthocomus hoazin]
OXSM [Opisthocomus hoazin]Gene ID:104333304Gene
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Last Updated: May 1, 2024