NM_000138.5(FBN1):c.3255G>A (p.Gln1085=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 21, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001178663.10
Allele description [Variation Report for NM_000138.5(FBN1):c.3255G>A (p.Gln1085=)]
NM_000138.5(FBN1):c.3255G>A (p.Gln1085=)
Condition(s)
-
Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 3, mRNA
Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 3, mRNAgi|1674986361|ref|NM_031496.2|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024