NM_000138.5(FBN1):c.8603T>A (p.Val2868Asp) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 18, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002314312.9
Allele description [Variation Report for NM_000138.5(FBN1):c.8603T>A (p.Val2868Asp)]
NM_000138.5(FBN1):c.8603T>A (p.Val2868Asp)
Condition(s)
-
Homo sapiens receptor accessory protein 2 (REEP2), transcript variant 2, mRNA
Homo sapiens receptor accessory protein 2 (REEP2), transcript variant 2, mRNAgi|1676440950|ref|NM_016606.4|Nucleotide
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Last Updated: Oct 20, 2024