Annotation Detail
Information
- Associated Genes
- MEFV LOC126862264
- Associated Variants
-
MEFV p.Met694Val (p.M694V)
(
ENST00000219596.6,
ENST00000541159.5,
ENST00000536379.5,
ENST00000339854.8 )
MEFV p.Met694Val (p.M694V) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- ClinVar
- Description
- NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND Familial Mediterranean fever
- ClinVar Allele ID
- 17577
- ClinVar RefSeq Alternation Syntax
- NM_001198536.2:c.*284A>G
- ClinVar RefSeq Alternation Syntax
- NM_000243.3:c.2080A>G
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-01-29
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002647
- ClinVar Disease
- Familial Mediterranean fever
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Observed Origin Sample
- maternal
- Pubmed
- 30171907
- Pubmed
- 27030597
- Pubmed
- 9288758
- Pubmed
- 9288094
- Pubmed
- 21290976
- Pubmed
- 10364520
- Pubmed
- 11464248
- Pubmed
- 9781020
Drugs