Details for FGF8:c.68A>T, p.Gln23Leu

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
103535498101775741
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FGF8
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT NM_033164.3
CDNA CHANGE c.68A>T
PROTEIN CHANGE p.Gln23Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.406645Disease causing
DBSNP ID rs1279824419
1 combination linked to FGF8:c.68A>T, p.Gln23Leu OLI410
1 disease linked to FGF8:c.68A>T, p.Gln23Leu Kallmann syndrome

Found any issues with the data on this page? Report this entry.