NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 29, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002314353.9
Allele description [Variation Report for NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)]
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)
Condition(s)
-
olfactomedin-like protein 1 isoform a precursor [Homo sapiens]
olfactomedin-like protein 1 isoform a precursor [Homo sapiens]gi|284172520|ref|NP_940876.2|Protein
-
RecName: Full=Arf-GAP with coiled-coil, ANK repeat and PH domain-containing prot...
RecName: Full=Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2; AltName: Full=Centaurin-beta-2; Short=Cnt-b2gi|39932727|sp|Q15057.3|ACAP2_HUMANProtein
-
glutamate receptor ionotropic, NMDA 2A isoform 1 precursor [Homo sapiens]
glutamate receptor ionotropic, NMDA 2A isoform 1 precursor [Homo sapiens]gi|197313636|ref|NP_001127879.1|Protein
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Last Updated: Aug 25, 2024