NM_000243.3(MEFV):c.2150G>A (p.Arg717His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002488080.1
Allele description [Variation Report for NM_000243.3(MEFV):c.2150G>A (p.Arg717His)]
NM_000243.3(MEFV):c.2150G>A (p.Arg717His)
Condition(s)
- Name:
- Familial Mediterranean fever (FMF)
- Synonyms:
- POLYSEROSITIS, FAMILIAL PAROXYSMAL; POLYSEROSITIS, RECURRENT; Periodic peritonitis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018088; MedGen: C0031069; Orphanet: 342; OMIM: 249100
-
Rattus norvegicus RAS protein activator like 3 (Rasal3), transcript variant 2, m...
Rattus norvegicus RAS protein activator like 3 (Rasal3), transcript variant 2, mRNAgi|2414128258|ref|NM_001134562.3|Nucleotide
-
adhesion molecule, interacts with CXADR antigen 1 [Homo sapiens]
adhesion molecule, interacts with CXADR antigen 1 [Homo sapiens]gi|23397451|ref|NP_694938.1|Protein
-
Mus musculus tripartite motif-containing 60 (Trim60), mRNA
Mus musculus tripartite motif-containing 60 (Trim60), mRNAgi|288541340|ref|NM_153097.2|Nucleotide
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Last Updated: Sep 29, 2024