NM_000138.5(FBN1):c.2084C>A (p.Pro695His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003766957.2
Allele description [Variation Report for NM_000138.5(FBN1):c.2084C>A (p.Pro695His)]
NM_000138.5(FBN1):c.2084C>A (p.Pro695His)
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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Homo sapiens dolichyl-phosphate mannosyltransferase subunit 3, regulatory (DPM3)...
Homo sapiens dolichyl-phosphate mannosyltransferase subunit 3, regulatory (DPM3), transcript variant 1, mRNAgi|24430133|ref|NM_018973.3|Nucleotide
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Last Updated: Sep 29, 2024