Details for LRP1B:c.2568C>G, p.His856Gln

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
141751640140994071
VARIANT EFFECT None
ANNOTATION FLAG None
GENE LRP1B
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_018557.3
CDNA CHANGE c.2568C>G
PROTEIN CHANGE p.His856Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00011170.00.00034780.00.00.00.00010590.00.0001307

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.920713Polymorphism
DBSNP ID NA
1 combination linked to LRP1B:c.2568C>G, p.His856Gln OLI1691
1 disease linked to LRP1B:c.2568C>G, p.His856Gln Non-Syndromic genetic keratoconus
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