NM_000243.3(MEFV):c.1920C>G (p.Ile640Met) AND Familial Mediterranean fever
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Mar 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000083720.4
Allele description [Variation Report for NM_000243.3(MEFV):c.1920C>G (p.Ile640Met)]
NM_000243.3(MEFV):c.1920C>G (p.Ile640Met)
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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Homo sapiens recombination signal binding protein for immunoglobulin kappa J reg...
Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNAgi|350606365|ref|NM_005349.3|Nucleotide
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hypothetical protein Naga_101508g3 [Nannochloropsis gaditana]
hypothetical protein Naga_101508g3 [Nannochloropsis gaditana]gi|585099533|gb|EWM20145.1||gnl|WGS |Naga_101508g3.2451Protein
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LOC120019553 [Salvelinus namaycush]
LOC120019553 [Salvelinus namaycush]Gene ID:120019553Gene
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Profile neighbors for GEO Profiles (Select 103774822) (200)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 103774822) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024