Annotation Detail
Information
- Associated Genes
- MEFV LOC126862264
- Associated Variants
-
MEFV p.Met680Ile (p.M680I)
(
ENST00000541159.5,
ENST00000339854.8,
ENST00000219596.6,
ENST00000536379.5 )
MEFV p.Met680Ile (p.M680I) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- Familial Mediterranean fever, autosomal dominant
- Source Database
- ClinVar
- Description
- NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) AND Familial Mediterranean fever, autosomal dominant
- ClinVar Allele ID
- 45169
- ClinVar RefSeq Alternation Syntax
- NM_000243.3:c.2040G>C
- ClinVar RefSeq Alternation Syntax
- NM_001198536.2:c.*244G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-16
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002254152
- ClinVar Disease
- Familial Mediterranean fever, autosomal dominant
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs