Details for WDR11:c.155A>G, p.Gln52Arg

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
122612104120852592
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE WDR11
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_018117.11
CDNA CHANGE c.155A>G
PROTEIN CHANGE p.Gln52Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.591e-050.00.00.00.00016310.00.00.03.267e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.869334Disease causing
DBSNP ID rs202191723
1 combination linked to WDR11:c.155A>G, p.Gln52Arg OLI854
1 disease linked to WDR11:c.155A>G, p.Gln52Arg Kallmann syndrome
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