Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Ala744Ser (p.A744S)
(
ENST00000219596.6,
ENST00000536379.5,
ENST00000541159.5,
ENST00000339854.8 )
MEFV p.Ala744Ser (p.A744S) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant familial Mediterranean fever
- Source Database
- ClinVar
- Description
- NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) AND multiple conditions
- ClinVar Allele ID
- 17587
- ClinVar RefSeq Alternation Syntax
- NM_001198536.2:c.*434G>T
- ClinVar RefSeq Alternation Syntax
- NM_000243.3:c.2230G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-11-23
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001535864
- ClinVar Disease
- Familial Mediterranean fever, autosomal dominant
- ClinVar Disease
- Familial Mediterranean fever
- ClinVar Disease
- Acute febrile neutrophilic dermatosis
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs