NM_000138.5(FBN1):c.4087+1G>A AND Marfan syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000659538.1
Allele description [Variation Report for NM_000138.5(FBN1):c.4087+1G>A]
NM_000138.5(FBN1):c.4087+1G>A
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
-
RAB3A interacting protein, isoform CRA_a [Rattus norvegicus]
RAB3A interacting protein, isoform CRA_a [Rattus norvegicus]gi|149066913|gb|EDM16646.1||gnl|WGS |rCP38862Protein
-
LOC4343248 [Oryza sativa Japonica Group]
LOC4343248 [Oryza sativa Japonica Group]Gene ID:4343248Gene
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024