Details for MEFV:c.1772T>C, p.Ile591Thr

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
32938803243880
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MEFV
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_000243.3
CDNA CHANGE c.1772T>C
PROTEIN CHANGE p.Ile591Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00440.00.00430.00.01790.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.010680.0016640.0034440.0042755.44e-050.020710.016420.007680.004348

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.773785Polymorphism
DBSNP ID NA
1 combination linked to MEFV:c.1772T>C, p.Ile591Thr OLI1788
1 disease linked to MEFV:c.1772T>C, p.Ile591Thr Autoinflammatory syndrome
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