NM_000243.3(MEFV):c.126G>A (p.Arg42=) AND Familial Mediterranean fever
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003604996.2
Allele description [Variation Report for NM_000243.3(MEFV):c.126G>A (p.Arg42=)]
NM_000243.3(MEFV):c.126G>A (p.Arg42=)
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
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Same Parent, Stereochemistry for PubChem Compound (Select 1637288... (2)
Same Parent, Stereochemistry for PubChem Compound (Select 163728815)SearchPubChem Compound
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Homologene neighbors for GEO Profiles (Select 125183960) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 125171501) (200)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 125193285) (200)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 19351529) (200)
GEO Profiles
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Last Updated: Sep 29, 2024