NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp) AND Marfan syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002245986.1
Allele description [Variation Report for NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp)]
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp)
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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probable G-protein coupled receptor 32 [Homo sapiens]
probable G-protein coupled receptor 32 [Homo sapiens]gi|4504093|ref|NP_001497.1|Protein
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SGMS2 [Buceros rhinoceros silvestris]
SGMS2 [Buceros rhinoceros silvestris]Gene ID:104499641Gene
-
MBOAT1 [Buceros rhinoceros silvestris]
MBOAT1 [Buceros rhinoceros silvestris]Gene ID:104497319Gene
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Myocarditis
MyocarditisInflammatory processes of the muscular walls of the heart (MYOCARDIUM) which result in injury to the cardiac muscle cells (MYOCYTES, CARDIAC). Manifestations range from subcli...<br/>MeSH
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Last Updated: Mar 5, 2024