NM_000138.5(FBN1):c.5548C>T (p.Arg1850Cys) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Nov 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001178141.5
Allele description [Variation Report for NM_000138.5(FBN1):c.5548C>T (p.Arg1850Cys)]
NM_000138.5(FBN1):c.5548C>T (p.Arg1850Cys)
Condition(s)
-
Homo sapiens PMS1 homolog 2, mismatch repair system component (PMS2), transcript...
Homo sapiens PMS1 homolog 2, mismatch repair system component (PMS2), transcript variant 3, mRNAgi|1676319167|ref|NM_001322004.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024