NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002500741.1
Allele description [Variation Report for NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu)]
NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu)
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 zinc finger protein 837 (ZNF837), transcript variant 2, mRNA
Homo sapiens zinc finger protein 837 (ZNF837), transcript variant 2, mRNAgi|193082979|ref|NM_138466.1|Nucleotide
-
UDP-glucose-glycoprotein glucosyltransferase-like protein [Thermochaetoides ther...
UDP-glucose-glycoprotein glucosyltransferase-like protein [Thermochaetoides thermophila DSM 1495]gi|340931905|gb|EGS19438.1||gnl|WGS |CTHT_0048990Protein
-
KLLA0F02409p [Kluyveromyces lactis]
KLLA0F02409p [Kluyveromyces lactis]gi|49644325|emb|CAG97896.1|Protein
-
Homo sapiens cDNA FLJ55426 complete cds
Homo sapiens cDNA FLJ55426 complete cdsgi|194389213|dbj|AK304857.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 29, 2023