Details for DCAF17:c.579C>A, p.Phe193Leu

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
172309675171453165
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DCAF17
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_025000.3
CDNA CHANGE c.579C>A
PROTEIN CHANGE p.Phe193Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00120.00.00.0060.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00044590.02.911e-050.00.0042860.08.847e-060.00033110.0009841

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.400761Polymorphism
DBSNP ID rs150095386
1 combination linked to DCAF17:c.579C>A, p.Phe193Leu OLI886
1 disease linked to DCAF17:c.579C>A, p.Phe193Leu Kallmann syndrome
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