NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe) AND Marfan 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:
- RCV003314337.1
Allele description [Variation Report for NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe)]
NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe)
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
-
cytochrome oxidase subunit III (mitochondrion) [Gallus gallus bankiva]
cytochrome oxidase subunit III (mitochondrion) [Gallus gallus bankiva]gi|71040228|dbj|BAE16084.1|Protein
-
translation elongation factor 1-alpha, partial [Fusarium verticillioides]
translation elongation factor 1-alpha, partial [Fusarium verticillioides]gi|2574168653|gb|WMV02737.1|Protein
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See more...Assertion and evidence details
Last Updated: Jul 22, 2023