NM_001613.4(ACTA2):c.840C>A (p.Thr280=) AND Aortic aneurysm, familial thoracic 6
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003633200.2
Allele description [Variation Report for NM_001613.4(ACTA2):c.840C>A (p.Thr280=)]
NM_001613.4(ACTA2):c.840C>A (p.Thr280=)
Condition(s)
-
RPL7P55 ribosomal protein L7 pseudogene 55 [Homo sapiens]
RPL7P55 ribosomal protein L7 pseudogene 55 [Homo sapiens]Gene ID:100271147Gene
-
RPL7P55 AND (alive[prop]) (1)
Gene
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Last Updated: Sep 29, 2024