Details for FGF17:c.580C>G, p.Gln194Glu

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
2190568922048178
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGF17
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.580C>G
PROTEIN CHANGE p.Gln194Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.184193Polymorphism
DBSNP ID NA
1 combination linked to FGF17:c.580C>G, p.Gln194Glu OLI1347
1 disease linked to FGF17:c.580C>G, p.Gln194Glu Kallmann syndrome
Found any issues with the data on this page? Report this entry.