Details for LRP5:c.3538G>A, p.Val1180Met

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
6819355668426088
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE LRP5
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_002335.3
CDNA CHANGE c.3538G>A
PROTEIN CHANGE p.Val1180Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.99e-060.00.00.05.44e-050.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.334672Polymorphism
DBSNP ID rs186535471
1 combination linked to LRP5:c.3538G>A, p.Val1180Met OLI306
1 disease linked to LRP5:c.3538G>A, p.Val1180Met Familial exudative vitreoretinopathy
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