NM_000138.5(FBN1):c.3724T>C (p.Cys1242Arg) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001939578.5
Allele description [Variation Report for NM_000138.5(FBN1):c.3724T>C (p.Cys1242Arg)]
NM_000138.5(FBN1):c.3724T>C (p.Cys1242Arg)
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
-
PREDICTED: Canis lupus familiaris VPS39 subunit of HOPS complex (VPS39), transcr...
PREDICTED: Canis lupus familiaris VPS39 subunit of HOPS complex (VPS39), transcript variant X1, mRNAgi|1953046768|ref|XM_038580158.1|Nucleotide
-
histone demethylase UTY isoform 21 [Homo sapiens]
histone demethylase UTY isoform 21 [Homo sapiens]gi|384871662|ref|NP_001245195.1|Protein
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Last Updated: Mar 5, 2024