NM_000138.5(FBN1):c.*2533C>A AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000338536.5
Allele description [Variation Report for NM_000138.5(FBN1):c.*2533C>A]
NM_000138.5(FBN1):c.*2533C>A
Condition(s)
-
Homo sapiens G elongation factor mitochondrial 1 (GFM1), RefSeqGene on chromosom...
Homo sapiens G elongation factor mitochondrial 1 (GFM1), RefSeqGene on chromosome 3; nuclear gene for mitochondrial productgi|2310183644|ref|NG_008441.2|Nucleotide
-
homeobox even-skipped homolog protein 1 isoform 1 [Homo sapiens]
homeobox even-skipped homolog protein 1 isoform 1 [Homo sapiens]gi|4503615|ref|NP_001980.1|Protein
-
Chain Q, Ragulator complex protein LAMTOR3
Chain Q, Ragulator complex protein LAMTOR3gi|2367144322|pdb|7UXH|QProtein
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Last Updated: Mar 30, 2024