NM_000138.5(FBN1):c.3079A>G (p.Lys1027Glu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001362282.8
Allele description [Variation Report for NM_000138.5(FBN1):c.3079A>G (p.Lys1027Glu)]
NM_000138.5(FBN1):c.3079A>G (p.Lys1027Glu)
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
-
1-aminocyclopropane-1-carboxylate oxidase [Hibiscus syriacus]
1-aminocyclopropane-1-carboxylate oxidase [Hibiscus syriacus]gi|1965071046|ref|XP_039003753.1|Protein
-
Memory Reconsolidation or Updating Consolidation? - Neural Plasticity and Memory
Memory Reconsolidation or Updating Consolidation? - Neural Plasticity and Memory
-
LOC128030893 [Carassius gibelio]
LOC128030893 [Carassius gibelio]Gene ID:128030893Gene
-
AL631144 XGC-gastrula Xenopus tropicalis cDNA clone TGas016a23 5', mRNA sequence
AL631144 XGC-gastrula Xenopus tropicalis cDNA clone TGas016a23 5', mRNA sequencegi|38450406|gnl|dbEST|20479363|emb| 144.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024