NM_000138.5(FBN1):c.1091G>A (p.Arg364Gln) AND Marfan syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003989672.2
Allele description [Variation Report for NM_000138.5(FBN1):c.1091G>A (p.Arg364Gln)]
NM_000138.5(FBN1):c.1091G>A (p.Arg364Gln)
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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tyrosine-protein kinase receptor UFO isoform X1 [Mus musculus]
tyrosine-protein kinase receptor UFO isoform X1 [Mus musculus]gi|568945784|ref|XP_006540052.1|Protein
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Last Updated: Sep 29, 2024