Details for DAAM1:c.1567G>A, p.Val523Ile

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
5979793359331215
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DAAM1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_014992.2
CDNA CHANGE c.1567G>A
PROTEIN CHANGE p.Val523Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.022e-050.00012310.00.00.04.623e-055.401e-050.03.269e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.088045Polymorphism
DBSNP ID rs750525026
1 combination linked to DAAM1:c.1567G>A, p.Val523Ile OLI704
1 disease linked to DAAM1:c.1567G>A, p.Val523Ile Craniorachischisis
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