NM_000243.3(MEFV):c.549G>A (p.Pro183=) AND Familial Mediterranean fever
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000802334.10
Allele description [Variation Report for NM_000243.3(MEFV):c.549G>A (p.Pro183=)]
NM_000243.3(MEFV):c.549G>A (p.Pro183=)
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
-
acetylcholine receptor subunit alpha [Scleropages formosus]
acetylcholine receptor subunit alpha [Scleropages formosus]gi|1083447773|ref|XP_018585183.1|Protein
-
BJ085053 NIBB Mochii normalized Xenopus tailbud library Xenopus laevis cDNA clon...
BJ085053 NIBB Mochii normalized Xenopus tailbud library Xenopus laevis cDNA clone XL102i20 3', mRNA sequencegi|17580885|gnl|dbEST|10553368|dbj| 053.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024