NM_000138.5(FBN1):c.6888G>T (p.Gln2296His) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- May 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000769624.6
Allele description [Variation Report for NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)]
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)
Condition(s)
-
Rattus norvegicus sperm acrosome associated 9 (Spaca9), transcript variant 2, mR...
Rattus norvegicus sperm acrosome associated 9 (Spaca9), transcript variant 2, mRNAgi|2199610646|ref|NM_181694.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024