NM_000138.5(FBN1):c.8232G>A (p.Gln2744=) AND Marfan syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003995960.2
Allele description [Variation Report for NM_000138.5(FBN1):c.8232G>A (p.Gln2744=)]
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=)
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 c oxidase subunit II (mitochondrion) [Mirza zaza]
cytochrome c oxidase subunit II (mitochondrion) [Mirza zaza]gi|1236518635|ref|YP_009414302.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024