Details for DCAF17:c.1547T>C, p.Ile516Thr

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
172337608171481098
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DCAF17
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_025000
CDNA CHANGE c.1547T>C
PROTEIN CHANGE p.Ile516Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.456943Polymorphism
DBSNP ID NA
1 combination linked to DCAF17:c.1547T>C, p.Ile516Thr OLI1556
1 disease linked to DCAF17:c.1547T>C, p.Ile516Thr 46,XY disorder of sex development
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