Details for APOB:c.1223T>C, p.Ile408Thr

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
2125535521032483
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE APOB
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_000384.2
CDNA CHANGE c.1223T>C
PROTEIN CHANGE p.Ile408Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00820.03030.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0018060.025410.00098290.00.00.01.759e-050.00081460.0

ESP
AAEA
0.027240.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.04498Polymorphism
DBSNP ID rs12714225
1 combination linked to APOB:c.1223T>C, p.Ile408Thr OLI463
1 disease linked to APOB:c.1223T>C, p.Ile408Thr Hypobetalipoproteinemia
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