NM_000243.3(MEFV):c.357G>C (p.Lys119Asn) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 10, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001027834.1
Allele description [Variation Report for NM_000243.3(MEFV):c.357G>C (p.Lys119Asn)]
NM_000243.3(MEFV):c.357G>C (p.Lys119Asn)
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: Jul 29, 2023