NM_005120.3(MED12):c.4448C>T (p.Ser1483Leu) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004636891.1
Allele description [Variation Report for NM_005120.3(MED12):c.4448C>T (p.Ser1483Leu)]
NM_005120.3(MED12):c.4448C>T (p.Ser1483Leu)
Condition(s)
-
Schizosaccharomyces pombe telomere-binding protein Rap1 (rap1), mRNA
Schizosaccharomyces pombe telomere-binding protein Rap1 (rap1), mRNAgi|2745685687|ref|NM_001022207.3|Nucleotide
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Last Updated: Aug 11, 2024