NM_000243.3(MEFV):c.808A>G (p.Asn270Asp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002489726.2
Allele description [Variation Report for NM_000243.3(MEFV):c.808A>G (p.Asn270Asp)]
NM_000243.3(MEFV):c.808A>G (p.Asn270Asp)
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
-
PREDICTED: Leucoraja erinacea glycogen [starch] synthase, muscle-like (LOC129705...
PREDICTED: Leucoraja erinacea glycogen [starch] synthase, muscle-like (LOC129705767), mRNAgi|2497451631|ref|XM_055649556.1|Nucleotide
-
FKBP4P1 FKBP prolyl isomerase 4 pseudogene 1 [Homo sapiens]
FKBP4P1 FKBP prolyl isomerase 4 pseudogene 1 [Homo sapiens]Gene ID:100132656Gene
-
FKBP4P1 AND (alive[prop]) (1)
Gene
-
Simple Hamartoma of the Retinal Pigment Epithelium
Simple Hamartoma of the Retinal Pigment EpitheliumMedGen
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024