Details for MEFV:c.2230G>T, p.Ala744Ser

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
32932573243257
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MEFV
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_000243.3
CDNA CHANGE c.2230G>T
PROTEIN CHANGE p.Ala744Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00180.00.00580.00.0050.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0018410.0001230.0027170.01330.00.00069290.0016270.0035840.0003593

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.83144Disease causing
DBSNP ID NA
2 combinations linked to MEFV:c.2230G>T, p.Ala744Ser OLI1758; OLI1783
1 disease linked to MEFV:c.2230G>T, p.Ala744Ser Autoinflammatory syndrome
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