Details for PDX1:c.670G>A, p.Glu224Lys

CHROMOSOME 13
GENOMIC COORDINATES
hg19hg38
2849865627924519
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PDX1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000209.3
CDNA CHANGE c.670G>A
PROTEIN CHANGE p.Glu224Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00320.00.00.00.00.0164

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0012860.00.00.00.00.00.00.0006880.009965

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.260193Polymorphism
DBSNP ID rs137852787
2 combinations linked to PDX1:c.670G>A, p.Glu224Lys OLI112; OLI113
1 disease linked to PDX1:c.670G>A, p.Glu224Lys MODY
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