Details for APOB:c.12803T>C, p.Met4268Thr

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
2122549121002619
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE APOB
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_000384.2
CDNA CHANGE c.12803T>C
PROTEIN CHANGE p.Met4268Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0030.01060.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00057770.0078450.00037630.00.00.01.762e-050.00049050.0

ESP
AAEA
0.0045390.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.96718Polymorphism
DBSNP ID rs72654422
1 combination linked to APOB:c.12803T>C, p.Met4268Thr OLI463
1 disease linked to APOB:c.12803T>C, p.Met4268Thr Hypobetalipoproteinemia
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