Details for MEFV:c.1773T>G, p.Ile591Met

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
32938793243879
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MEFV
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_000243.3
CDNA CHANGE c.1773T>G
PROTEIN CHANGE p.Ile591Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.991e-050.00.00.00.0002720.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.214698Disease causing
DBSNP ID NA
2 combinations linked to MEFV:c.1773T>G, p.Ile591Met OLI1751; OLI1781
1 disease linked to MEFV:c.1773T>G, p.Ile591Met Autoinflammatory syndrome
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