NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000631910.14
Allele description [Variation Report for NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr)]
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr)
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
-
Mus musculus vomeronasal 2, receptor 23 (Vmn2r23), mRNA
Mus musculus vomeronasal 2, receptor 23 (Vmn2r23), mRNAgi|157277999|ref|NM_001104638.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024