NM_000138.5(FBN1):c.3656dup (p.Tyr1219Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 6, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000631927.5
Allele description [Variation Report for NM_000138.5(FBN1):c.3656dup (p.Tyr1219Ter)]
NM_000138.5(FBN1):c.3656dup (p.Tyr1219Ter)
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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marine sediment metagenome
marine sediment metagenomeGuaymas Basin sediment metagenomic assemblyBioProject
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BioProject Links for BioSample (Select 9214861) (1)
BioProject
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024