Details for IRX6:c.952T>A, p.Phe318Ile

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5536284255328930
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE IRX6
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT NM_024335.2
CDNA CHANGE c.952T>A
PROTEIN CHANGE p.Phe318Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00480.01740.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0010880.015610.00054970.00.00.08.926e-060.00049150.0

ESP
AAEA
0.014330.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.049873Polymorphism
DBSNP ID rs61743419
1 combination linked to IRX6:c.952T>A, p.Phe318Ile OLI602
1 disease linked to IRX6:c.952T>A, p.Phe318Ile Disorder of sex development
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