NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002549725.2
Allele description [Variation Report for NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg)]
NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg)
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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Galegeae 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1...
Galegeae 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence.PopSet: 1395440474PopSet
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PopSet Links for Nucleotide (Select 1395440528) (1)
PopSet
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BioProject Links for Nucleotide (Select 397136008) (1)
BioProject
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Coronaviridae
CoronaviridaeCoronavirus Genome Sequencing Project for J. Craig Venter InstituteBioProject
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Taxonomy Links for Nucleotide (Select 397136018) (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024