Details for MEFV:c.1502G>A, p.Arg501His

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
32971013247101
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MEFV
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000243.3
CDNA CHANGE c.1502G>A
PROTEIN CHANGE p.Arg501His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0001710.00.00.0029760.00.07.911e-050.00048863.266e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign-0.581254Polymorphism
DBSNP ID NA
1 combination linked to MEFV:c.1502G>A, p.Arg501His OLI1757
1 disease linked to MEFV:c.1502G>A, p.Arg501His Autoinflammatory syndrome
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