NM_000138.5(FBN1):c.3939C>T (p.Gly1313=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004520566.1
Allele description [Variation Report for NM_000138.5(FBN1):c.3939C>T (p.Gly1313=)]
NM_000138.5(FBN1):c.3939C>T (p.Gly1313=)
Condition(s)
-
Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 6, ...
Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 6, non-coding RNAgi|1802564010|ref|NR_165399.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024