Details for LRP5:c.4488+2T>G,

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
6820738668439918
VARIANT EFFECT None
ANNOTATION FLAG None
GENE LRP5
REFERENCE ALLELE T
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.4488+2T>G
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.894201Disease causing
DBSNP ID NA
1 combination linked to LRP5:c.4488+2T>G, OLI1252
1 disease linked to LRP5:c.4488+2T>G, Familial exudative vitreoretinopathy

Found any issues with the data on this page? Report this entry.