Details for MEFV:c.986G>A, p.Arg329His

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
32997053249705
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MEFV
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000243.3
CDNA CHANGE c.986G>A
PROTEIN CHANGE p.Arg329His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00160.00.00140.00.0020.0051

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0016310.00037020.00043430.011330.04.644e-050.0017850.0014750.002061

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-1.465561Polymorphism
DBSNP ID NA
1 combination linked to MEFV:c.986G>A, p.Arg329His OLI1782
1 disease linked to MEFV:c.986G>A, p.Arg329His Autoinflammatory syndrome
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