NM_000243.3(MEFV):c.27G>A (p.Leu9=) AND Familial Mediterranean fever
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002824125.3
Allele description [Variation Report for NM_000243.3(MEFV):c.27G>A (p.Leu9=)]
NM_000243.3(MEFV):c.27G>A (p.Leu9=)
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
-
lactase/phlorizin hydrolase preproprotein [Rattus norvegicus]
lactase/phlorizin hydrolase preproprotein [Rattus norvegicus]gi|281306775|ref|NP_446293.1|Protein
-
Lct [Rattus norvegicus]
Lct [Rattus norvegicus]gi|161728827|dbj|BAF94233.1|Protein
-
unnamed protein product [Eutrema halophilum]
unnamed protein product [Eutrema halophilum]gi|312281993|dbj|BAJ33862.1|Protein
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Last Updated: Sep 29, 2024