NM_000243.3(MEFV):c.344C>G (p.Pro115Arg) AND Familial Mediterranean fever
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000941478.21
Allele description [Variation Report for NM_000243.3(MEFV):c.344C>G (p.Pro115Arg)]
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg)
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
Assertion and evidence details
Last Updated: Aug 18, 2024