NM_000243.3(MEFV):c.2109C>T (p.Ser703=) AND Familial Mediterranean fever
- Germline classification:
- Conflicting interpretations of pathogenicity (4 submissions)
- Last evaluated:
- Jan 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000083745.13
Allele description [Variation Report for NM_000243.3(MEFV):c.2109C>T (p.Ser703=)]
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)
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
-
cytidine deaminase [Homo sapiens]
cytidine deaminase [Homo sapiens]gi|11386157|ref|NP_001776.1|Protein
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024