Details for WDR11:c.3242G>A, p.Arg1081His

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
122664879120905367
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE WDR11
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_018117.11
CDNA CHANGE c.3242G>A
PROTEIN CHANGE p.Arg1081His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00020280.00.09.921e-050.002610.08.792e-060.03.266e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.434298Disease causing
DBSNP ID rs201686484
1 combination linked to WDR11:c.3242G>A, p.Arg1081His OLI854
1 disease linked to WDR11:c.3242G>A, p.Arg1081His Kallmann syndrome
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