Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Phe479Leu (p.F479L)
(
ENST00000339854.8,
ENST00000541159.5,
ENST00000536379.5,
ENST00000219596.6 )
MEFV p.Phe479Leu (p.F479L) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- ClinVar
- Description
- NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) AND Familial Mediterranean fever
- ClinVar Allele ID
- 17584
- ClinVar RefSeq Alternation Syntax
- NM_000243.3:c.1437C>G
- ClinVar RefSeq Alternation Syntax
- NM_001198536.2:c.804C>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2022-11-03
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002654
- ClinVar Disease
- Familial Mediterranean fever
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
- Observed Origin Sample
- unknown
- Pubmed
- 19863562
- Pubmed
- 9668175
Drugs