NM_000138.5(FBN1):c.8232G>A (p.Gln2744=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000457337.19
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
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DKFZp686B14256_r1 686 (synonym: hlcc3) Homo sapiens cDNA clone DKFZp686B14256 5'...
DKFZp686B14256_r1 686 (synonym: hlcc3) Homo sapiens cDNA clone DKFZp686B14256 5', mRNA sequencegi|31951719|gnl|dbEST|18793724|emb| 266.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024