NM_000138.5(FBN1):c.6880G>A (p.Glu2294Lys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003787789.2
Allele description [Variation Report for NM_000138.5(FBN1):c.6880G>A (p.Glu2294Lys)]
NM_000138.5(FBN1):c.6880G>A (p.Glu2294Lys)
Condition(s)
- Name:
- Marfan syndrome (MFS)
- Synonyms:
- MARFAN SYNDROME, TYPE I; Marfan syndrome type 1; Marfan's syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700
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Homologene neighbors for GEO Profiles (Select 122112888) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 48312439) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 48295493) (199)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 48329597) (19)
GEO Profiles
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Normal ovarian and fallopian tube epithelial cells immortalized with hTERT
Normal ovarian and fallopian tube epithelial cells immortalized with hTERTAccession: GDS5321GEO DataSets
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Last Updated: Sep 29, 2024