NM_000243.3(MEFV):c.577G>A (p.Ala193Thr) AND Familial Mediterranean fever
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002519744.3
Allele description [Variation Report for NM_000243.3(MEFV):c.577G>A (p.Ala193Thr)]
NM_000243.3(MEFV):c.577G>A (p.Ala193Thr)
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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Mus musculus SH3-binding kinase 1, mRNA (cDNA clone MGC:36574 IMAGE:5098034), co...
Mus musculus SH3-binding kinase 1, mRNA (cDNA clone MGC:36574 IMAGE:5098034), complete cdsgi|18848260|gb|BC024114.1|Nucleotide
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Last Updated: Sep 29, 2024