NM_000138.5(FBN1):c.4577G>A (p.Cys1526Tyr) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 28, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002311132.9
Allele description [Variation Report for NM_000138.5(FBN1):c.4577G>A (p.Cys1526Tyr)]
NM_000138.5(FBN1):c.4577G>A (p.Cys1526Tyr)
Condition(s)
-
Chromosome neighbors for GEO Profiles (Select 90840384) (20)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 90844088) (20)
GEO Profiles
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IGFBP7 insulin like growth factor binding protein 7 [Homo sapiens]
IGFBP7 insulin like growth factor binding protein 7 [Homo sapiens]Gene ID:3490Gene
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Gene Links for GEO Profiles (Select 90837011) (1)
Gene
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rap1 GTPase-activating protein 2 isoform X3 [Homo sapiens]
rap1 GTPase-activating protein 2 isoform X3 [Homo sapiens]gi|2217310836|ref|XP_047291624.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024