NM_000138.5(FBN1):c.6881A>C (p.Glu2294Ala) AND Marfan syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 7, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000663908.1
Allele description [Variation Report for NM_000138.5(FBN1):c.6881A>C (p.Glu2294Ala)]
NM_000138.5(FBN1):c.6881A>C (p.Glu2294Ala)
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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Aplasia cutis congenita over the scalp vertex
Aplasia cutis congenita over the scalp vertexMedGen
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Homologene neighbors for GEO Profiles (Select 122114014) (0)
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Homologene neighbors for GEO Profiles (Select 6124731) (0)
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Profile neighbors for GEO Profiles (Select 122062720) (199)
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Profile neighbors for GEO Profiles (Select 122086105) (199)
GEO Profiles
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Last Updated: Dec 11, 2022