NM_000138.5(FBN1):c.7524A>G (p.Thr2508=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003771612.1
Allele description [Variation Report for NM_000138.5(FBN1):c.7524A>G (p.Thr2508=)]
NM_000138.5(FBN1):c.7524A>G (p.Thr2508=)
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
-
Aspergillus thermomutatus strain HMR AF 39 chromosome Unknown NODE_272, whole ge...
Aspergillus thermomutatus strain HMR AF 39 chromosome Unknown NODE_272, whole genome shotgun sequencegi|1489811505|ref|NW_020798322.1||g F_WGS:NKHU02|NODE_272Nucleotide
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Last Updated: Mar 5, 2024