NM_000243.3(MEFV):c.2103G>A (p.Ala701=) AND Familial Mediterranean fever
- Germline classification:
- Benign/Likely benign (3 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000083743.10
Allele description [Variation Report for NM_000243.3(MEFV):c.2103G>A (p.Ala701=)]
NM_000243.3(MEFV):c.2103G>A (p.Ala701=)
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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Homo sapiens proteasome assembly chaperone 4 (PSMG4), transcript variant 2, mRNA
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Enterobacter sp. LJ03
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Myriopus psilostachys isolate Kew DNA 41714 ribulose-1,5-bisphosphate carboxylas...
Myriopus psilostachys isolate Kew DNA 41714 ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial cds; chloroplastgi|2072437506|gb|MZ611854.1|Nucleotide
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Mus musculus membrane-associated ring finger (C3HC4) 5, mRNA (cDNA clone MGC:765...
Mus musculus membrane-associated ring finger (C3HC4) 5, mRNA (cDNA clone MGC:76546 IMAGE:30049608), complete cdsgi|40555796|gb|BC064752.1|Nucleotide
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Last Updated: Oct 8, 2024