NM_000243.3(MEFV):c.30G>A (p.Leu10=) AND Familial Mediterranean fever
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Feb 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001278369.4
Allele description [Variation Report for NM_000243.3(MEFV):c.30G>A (p.Leu10=)]
NM_000243.3(MEFV):c.30G>A (p.Leu10=)
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
-
hypothetical protein SNOG_05515 [Parastagonospora nodorum SN15]
hypothetical protein SNOG_05515 [Parastagonospora nodorum SN15]gi|169604999|ref|XP_001795920.1|Protein
-
hypothetical protein NCU10392 [Neurospora crassa OR74A]
hypothetical protein NCU10392 [Neurospora crassa OR74A]gi|164424013|ref|XP_001728118.1||gn _WGS:AABX|NCUT_07805Protein
-
PREDICTED: Homo sapiens carboxylesterase 1 (CES1), transcript variant X1, mRNA
PREDICTED: Homo sapiens carboxylesterase 1 (CES1), transcript variant X1, mRNAgi|530423535|ref|XM_005255774.1|Nucleotide
-
Homo sapiens CES1A1 mRNA for carboxylesterase HU1a, complete cds
Homo sapiens CES1A1 mRNA for carboxylesterase HU1a, complete cdsgi|34740316|dbj|AB119995.1|Nucleotide
-
SEC14L3 protein [Homo sapiens]
SEC14L3 protein [Homo sapiens]gi|71680810|gb|AAI01004.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024