NM_000243.3(MEFV):c.1792G>A (p.Val598Ile) AND Familial Mediterranean fever
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Sep 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001204834.9
Allele description [Variation Report for NM_000243.3(MEFV):c.1792G>A (p.Val598Ile)]
NM_000243.3(MEFV):c.1792G>A (p.Val598Ile)
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
-
LOC6607368 [Drosophila sechellia]
LOC6607368 [Drosophila sechellia]Gene ID:6607368Gene
-
Gm23673 AND (alive[prop]) (1)
Gene
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Last Updated: Sep 29, 2024