Details for LRP5:c.58_60dup, p.Leu20dup

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
6808021468312746
VARIANT EFFECT None
ANNOTATION FLAG None
GENE LRP5
REFERENCE ALLELE C
ALTERNATE ALLELE CGCT
TRANSCRIPT N.A.
CDNA CHANGE c.58_60dup
PROTEIN CHANGE p.Leu20dup
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.793343Polymorphism
DBSNP ID NA
2 combinations linked to LRP5:c.58_60dup, p.Leu20dup OLI1249; OLI1250
1 disease linked to LRP5:c.58_60dup, p.Leu20dup Familial exudative vitreoretinopathy
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