Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Glu84Gln (p.E84Q)
(
ENST00000339854.8,
ENST00000541159.5,
ENST00000536379.5,
ENST00000219596.6 )
MEFV p.Glu84Gln (p.E84Q) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis
- Source Database
- ClinVar
- Description
- NM_000243.3(MEFV):c.250G>C (p.Glu84Gln) AND multiple conditions
- ClinVar Allele ID
- 260114
- ClinVar RefSeq Alternation Syntax
- NM_000243.3:c.250G>C
- ClinVar RefSeq Alternation Syntax
- NM_001198536.2:c.250G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-04-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002486745
- ClinVar Disease
- Familial Mediterranean fever, autosomal dominant
- ClinVar Disease
- Familial Mediterranean fever
- ClinVar Disease
- Acute febrile neutrophilic dermatosis
- Observed Origin Sample
- unknown
Drugs