Annotation Detail

Information
Associated Genes
MEFV
Associated Variants
MEFV p.Gln440Glu (p.Q440E) ( ENST00000339854.8, ENST00000541159.5, ENST00000536379.5, ENST00000219596.6 )
MEFV p.Gln440Glu (p.Q440E) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
Associated Disease
Familial Mediterranean fever, autosomal dominant familial Mediterranean fever
Source Database
ClinVar
Description
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) AND multiple conditions
ClinVar Allele ID
45161
ClinVar RefSeq Alternation Syntax
NM_001198536.2:c.685C>G
ClinVar RefSeq Alternation Syntax
NM_000243.3:c.1318C>G
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2019-11-22
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001281041
ClinVar Disease
Familial Mediterranean fever, autosomal dominant
ClinVar Disease
Familial Mediterranean fever
Observed Origin Sample
germline
Drugs