Details for GCK:c.868G>T, p.Glu290Ter

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
4418616244146563
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GCK
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000162.3
CDNA CHANGE c.868G>T
PROTEIN CHANGE p.Glu290Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.650624Disease causing
DBSNP ID NA
1 combination linked to GCK:c.868G>T, p.Glu290Ter OLI1721
1 disease linked to GCK:c.868G>T, p.Glu290Ter MODY
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