Details for WDR11:c.3449T>C, p.Phe1150Ser

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
122666299120906787
VARIANT EFFECT None
ANNOTATION FLAG None
GENE WDR11
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_018117.12
CDNA CHANGE c.3449T>C
PROTEIN CHANGE p.Phe1150Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.193e-050.00.00.00.00016310.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.821615Polymorphism
DBSNP ID rs201977924
1 combination linked to WDR11:c.3449T>C, p.Phe1150Ser OLI1115
1 disease linked to WDR11:c.3449T>C, p.Phe1150Ser Kallmann syndrome
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