Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Glu148Gln (p.E148Q)
(
ENST00000541159.5,
ENST00000339854.8,
ENST00000536379.5,
ENST00000219596.6 )
MEFV p.Glu148Gln (p.E148Q) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- Familial Mediterranean fever, autosomal dominant
- Source Database
- ClinVar
- Description
- NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) AND Familial Mediterranean fever, autosomal dominant
- ClinVar Allele ID
- 17581
- ClinVar RefSeq Alternation Syntax
- NM_000243.3:c.442G>C
- ClinVar RefSeq Alternation Syntax
- NM_001198536.2:c.277+1685G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-06-09
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000761446
- ClinVar Disease
- Familial Mediterranean fever, autosomal dominant
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs