NM_000138.5(FBN1):c.4011dup (p.Val1338fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003813108.1
Allele description [Variation Report for NM_000138.5(FBN1):c.4011dup (p.Val1338fs)]
NM_000138.5(FBN1):c.4011dup (p.Val1338fs)
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
-
hotdog fold thioesterase [Pseudomonas asturiensis]
hotdog fold thioesterase [Pseudomonas asturiensis]gi|1796349044|gnl|PRJNA211397|N015_ |gb|QHF03983.1|Protein
-
LOC4341824 [Oryza sativa Japonica Group]
LOC4341824 [Oryza sativa Japonica Group]Gene ID:4341824Gene
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024