NM_000138.5(FBN1):c.991G>A (p.Val331Ile) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003804288.2
Allele description [Variation Report for NM_000138.5(FBN1):c.991G>A (p.Val331Ile)]
NM_000138.5(FBN1):c.991G>A (p.Val331Ile)
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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MBOAT2 [Zonotrichia albicollis]
MBOAT2 [Zonotrichia albicollis]Gene ID:102066959Gene
-
SLC2A2 [Zonotrichia albicollis]
SLC2A2 [Zonotrichia albicollis]Gene ID:102066121Gene
-
INSR insulin receptor [Homo sapiens]
INSR insulin receptor [Homo sapiens]Gene ID:3643Gene
-
Taxonomy Links for Nucleotide (Select 2217370391) (1)
Taxonomy
-
Zipper-interacting protein kinase deficiency effect on coronary artery smooth mu...
Zipper-interacting protein kinase deficiency effect on coronary artery smooth muscle cells in vitroAccession: GDS5948GEO DataSets
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024