Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.His478Tyr (p.H478Y)
(
ENST00000541159.5,
ENST00000219596.6,
ENST00000339854.8,
ENST00000536379.5 )
MEFV p.His478Tyr (p.H478Y) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- ClinVar
- Description
- NM_000243.3(MEFV):c.1432C>T (p.His478Tyr) AND Familial Mediterranean fever
- ClinVar Allele ID
- 17596
- ClinVar RefSeq Alternation Syntax
- NM_000243.3:c.1432C>T
- ClinVar RefSeq Alternation Syntax
- NM_001198536.2:c.799C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-02-08
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000083696
- ClinVar Disease
- Familial Mediterranean fever
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
- Observed Origin Sample
- unknown
Drugs