Details for MEFV:c.442G>A, p.Glu148Gln

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
33046263254626
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MEFV
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_000243.3
CDNA CHANGE c.442G>A
PROTEIN CHANGE p.Glu148Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.12640.02040.01150.28870.00890.3047

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.07110.014620.013070.055660.29120.0018640.013880.044750.2842

ESP
AAEA
0.01040.01161
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging1.870492Disease causing
DBSNP ID rs3743930
1 combination linked to MEFV:c.442G>A, p.Glu148Gln OLI412
1 disease linked to MEFV:c.442G>A, p.Glu148Gln Familial Mediterranean fever
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