NM_000138.5(FBN1):c.3981A>C (p.Glu1327Asp) AND Progeroid and marfanoid aspect-lipodystrophy syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003314480.1
Allele description [Variation Report for NM_000138.5(FBN1):c.3981A>C (p.Glu1327Asp)]
NM_000138.5(FBN1):c.3981A>C (p.Glu1327Asp)
Condition(s)
- Name:
- Progeroid and marfanoid aspect-lipodystrophy syndrome
- Synonyms:
- MARFANOID-PROGEROID SYNDROME; MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME; Marfan lipodystrophy syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0014831; MedGen: C4310796; Orphanet: 300382; OMIM: 616914
-
RecName: Full=Ovoinhibitor; Flags: Precursor
RecName: Full=Ovoinhibitor; Flags: Precursorgi|1708509|sp|P10184.2|IOV7_CHICKProtein
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Last Updated: Aug 5, 2023