Details for APOB:c.7242A>C, p.Glu2414Asp

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
2123249821009626
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE APOB
REFERENCE ALLELE T
ALTERNATE ALLELE G
TRANSCRIPT NM_000384.2
CDNA CHANGE c.7242A>C
PROTEIN CHANGE p.Glu2414Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0030.01060.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00057860.0078610.0003480.00.00.01.766e-050.00049213.271e-05

ESP
AAEA
0.0045390.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.853173Polymorphism
DBSNP ID rs72653091
1 combination linked to APOB:c.7242A>C, p.Glu2414Asp OLI463
1 disease linked to APOB:c.7242A>C, p.Glu2414Asp Hypobetalipoproteinemia
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