NM_000243.3(MEFV):c.283T>C (p.Ser95Pro) AND Familial Mediterranean fever
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001203619.5
Allele description [Variation Report for NM_000243.3(MEFV):c.283T>C (p.Ser95Pro)]
NM_000243.3(MEFV):c.283T>C (p.Ser95Pro)
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
-
Mus musculus DNA segment, Chr 2, ERATO Doi 750, expressed (D2Ertd750e), mRNA
Mus musculus DNA segment, Chr 2, ERATO Doi 750, expressed (D2Ertd750e), mRNAgi|141801803|ref|NM_026412.2|Nucleotide
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Last Updated: Feb 7, 2023