Annotation Detail
Information
- Associated Genes
- MEFV LOC126862264
- Associated Variants
-
MEFV p.Ile692del (p.I692del)
(
ENST00000339854.8,
ENST00000541159.5,
ENST00000536379.5,
ENST00000219596.6 )
MEFV p.Ile692del (p.I692del) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- Familial Mediterranean fever, autosomal dominant
- Source Database
- ClinVar
- Description
- NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) AND Familial Mediterranean fever, autosomal dominant
- ClinVar Allele ID
- 103377
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-08-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003460764
- ClinVar Disease
- Familial Mediterranean fever, autosomal dominant
- Observed Origin Sample
- unknown
Drugs