NM_000138.5(FBN1):c.3590A>G (p.Asp1197Gly) AND Marfan syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002246026.1
Allele description [Variation Report for NM_000138.5(FBN1):c.3590A>G (p.Asp1197Gly)]
NM_000138.5(FBN1):c.3590A>G (p.Asp1197Gly)
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
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Apotomis infida]
cytochrome oxidase subunit 1, partial (mitochondrion) [Apotomis infida]gi|908313065|gb|AKT10659.1|Protein
-
yg29b10.r1 Soares infant brain 1NIB Homo sapiens cDNA clone IMAGE:33903 5', mRNA...
yg29b10.r1 Soares infant brain 1NIB Homo sapiens cDNA clone IMAGE:33903 5', mRNA sequencegi|778398|gnl|dbEST|193555|gb|R2351Nucleotide
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Similar studies for GEO DataSets (Select 200155036) (4)
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Last Updated: Dec 24, 2023