NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly) AND Marfan syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004008295.2
Allele description [Variation Report for NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly)]
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly)
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
-
Pseudomonas versuta, complete genome
Pseudomonas versuta, complete genomegi|928481363|gnl|PRJNA295629|Contig |gb|CP012676.1|Nucleotide
-
Multiple epiphyseal dysplasia
Multiple epiphyseal dysplasiaMedGen
-
Homo sapiens isolate:CHM13
Homo sapiens isolate:CHM13Homo sapiens isolate:CHM13 RefSeq Genome sequencing and assemblyBioProject
-
BioProject Links for Protein (Select 2462628740) (1)
BioProject
-
Taxonomy Links for Protein (Select 2713752541) (1)
Taxonomy
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 7, 2024