NM_000243.3(MEFV):c.453G>A (p.Arg151=) AND Familial Mediterranean fever
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002104492.6
Allele description [Variation Report for NM_000243.3(MEFV):c.453G>A (p.Arg151=)]
NM_000243.3(MEFV):c.453G>A (p.Arg151=)
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
-
laminin subunit alpha-1 precursor [Homo sapiens]
laminin subunit alpha-1 precursor [Homo sapiens]gi|38788416|ref|NP_005550.2|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024