NM_000243.3(MEFV):c.1920C>T (p.Ile640=) AND Familial Mediterranean fever
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003089962.2
Allele description [Variation Report for NM_000243.3(MEFV):c.1920C>T (p.Ile640=)]
NM_000243.3(MEFV):c.1920C>T (p.Ile640=)
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
-
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal dominant nonsyndromic hearing loss 3BMedGen
-
C2675237[conceptid] (1)
MedGen
-
Mitochondrial trifunctional protein deficiency
Mitochondrial trifunctional protein deficiencyMedGen
-
C1969443[conceptid] (1)
MedGen
-
uncharacterized protein LOC100250913 isoform X1 [Vitis vinifera]
uncharacterized protein LOC100250913 isoform X1 [Vitis vinifera]gi|359472808|ref|XP_002274465.2|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 28, 2024