Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Val726Ala (p.V726A)
(
ENST00000536379.5,
ENST00000541159.5,
ENST00000219596.6,
ENST00000339854.8 )
MEFV p.Val726Ala (p.V726A) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- ClinVar
- Description
- NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) AND Familial Mediterranean fever
- ClinVar Allele ID
- 17579
- ClinVar RefSeq Alternation Syntax
- NM_001198536.2:c.*381T>C
- ClinVar RefSeq Alternation Syntax
- NM_000243.3:c.2177T>C
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-04-04
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002649
- ClinVar Disease
- Familial Mediterranean fever
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 9288758
- Pubmed
- 9288094
Drugs