Details for DCAF17:c.1507T>C, p.Tyr503His

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
172337568171481058
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DCAF17
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_025000.3
CDNA CHANGE c.1507T>C
PROTEIN CHANGE p.Tyr503His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging4.069846Disease causing
DBSNP ID NA
1 combination linked to DCAF17:c.1507T>C, p.Tyr503His OLI849
1 disease linked to DCAF17:c.1507T>C, p.Tyr503His Kallmann syndrome
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