NM_000243.3(MEFV):c.489G>T (p.Glu163Asp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002506080.1
Allele description [Variation Report for NM_000243.3(MEFV):c.489G>T (p.Glu163Asp)]
NM_000243.3(MEFV):c.489G>T (p.Glu163Asp)
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
-
BX106051 NCI_CGAP_Co16 Homo sapiens cDNA clone IMAGp998E235947; IMAGE:2394238 5'...
BX106051 NCI_CGAP_Co16 Homo sapiens cDNA clone IMAGp998E235947; IMAGE:2394238 5', mRNA sequencegi|27833866|gnl|dbEST|16739684|emb| 051.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024