Details for APOB:c.6895G>C, p.Asp2299His

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
2123284521009973
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE APOB
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_000384.2
CDNA CHANGE c.6895G>C
PROTEIN CHANGE p.Asp2299His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00880.03180.00290.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0016650.021730.00092540.00.04.638e-050.00019380.0016320.0

ESP
AAEA
0.01680.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.080235Polymorphism
DBSNP ID rs12713681
1 combination linked to APOB:c.6895G>C, p.Asp2299His OLI463
1 disease linked to APOB:c.6895G>C, p.Asp2299His Hypobetalipoproteinemia
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