Details for LRP1B:c.11227G>A,

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
141116420140358851
VARIANT EFFECT None
ANNOTATION FLAG None
GENE LRP1B
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_018557.3
CDNA CHANGE c.11227G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0020.00.00140.00.0070.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0069120.0012340.004630.0099645.454e-050.0068010.010210.006560.003629

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.162844Polymorphism
DBSNP ID NA
1 combination linked to LRP1B:c.11227G>A, OLI1328
1 disease linked to LRP1B:c.11227G>A, Primary immunodeficiency
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