Details for IL17RD:c.1319G>T, p.Gly440Val

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
5713241257098384
VARIANT EFFECT None
ANNOTATION FLAG None
GENE IL17RD
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.1319G>T
PROTEIN CHANGE p.Gly440Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00010360.00.00.00.0013590.08.817e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.520676Polymorphism
DBSNP ID NA
1 combination linked to IL17RD:c.1319G>T, p.Gly440Val OLI1343
1 disease linked to IL17RD:c.1319G>T, p.Gly440Val Kallmann syndrome

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