NM_000138.5(FBN1):c.4043G>T (p.Cys1348Phe) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001945019.3
Allele description [Variation Report for NM_000138.5(FBN1):c.4043G>T (p.Cys1348Phe)]
NM_000138.5(FBN1):c.4043G>T (p.Cys1348Phe)
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
-
Grade 1 Small Bowel Stricture or Stenosis NOS, CTCAE
Grade 1 Small Bowel Stricture or Stenosis NOS, CTCAEMedGen
-
BioAssay by Target (List) for Gene (Select 3123) (28)
PubChem BioAssay
-
NSMCE1 NSE1 homolog, SMC5-SMC6 complex component [Homo sapiens]
NSMCE1 NSE1 homolog, SMC5-SMC6 complex component [Homo sapiens]Gene ID:197370Gene
-
Gene Links for GEO Profiles (Select 67882181) (1)
Gene
-
GSE25011[ACCN] AND gsm[ETYP] (86)
GEO DataSets
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Last Updated: Feb 28, 2024