Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Glu148Val (p.E148V)
(
ENST00000536379.5,
ENST00000219596.6,
ENST00000339854.8,
ENST00000541159.5 )
MEFV p.Glu148Val (p.E148V) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- Acute febrile neutrophilic dermatosis
- Source Database
- ClinVar
- Description
- NM_000243.3(MEFV):c.443A>T (p.Glu148Val) AND Acute febrile neutrophilic dermatosis
- ClinVar Allele ID
- 17593
- ClinVar RefSeq Alternation Syntax
- NM_000243.3:c.443A>T
- ClinVar RefSeq Alternation Syntax
- NM_001198536.2:c.277+1686A>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-02-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003125826
- ClinVar Disease
- Acute febrile neutrophilic dermatosis
- Observed Origin Sample
- germline
Drugs