NM_000243.3(MEFV):c.-15C>G AND Familial Mediterranean fever
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000294823.6
Allele description [Variation Report for NM_000243.3(MEFV):c.-15C>G]
NM_000243.3(MEFV):c.-15C>G
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
-
Lactase-phlorizin hydrolase [Cricetulus griseus]
Lactase-phlorizin hydrolase [Cricetulus griseus]gi|344244844|gb|EGW00948.1||gnl|WGS |I79_003354Protein
-
lactase [Rattus norvegicus]
lactase [Rattus norvegicus]gi|149058719|gb|EDM09876.1||gnl|WGS |rCP33899Protein
-
1DWA (3)
Protein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023