Details for FGF17:c.323T>C, p.Ile108Thr

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
2190411022046599
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FGF17
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_003867.3
CDNA CHANGE c.323T>C
PROTEIN CHANGE p.Ile108Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.822483Polymorphism
DBSNP ID rs398123024
1 combination linked to FGF17:c.323T>C, p.Ile108Thr OLI367
1 disease linked to FGF17:c.323T>C, p.Ile108Thr Kallmann syndrome
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