Details for FGF8:c.451G>A, p.Gly151Ser

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
103530370101770613
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE FGF8
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_033163.5
CDNA CHANGE c.451G>A
PROTEIN CHANGE p.Gly151Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.618e-050.00.00.00.00.00.00.00.0001307

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.80628Disease causing
DBSNP ID rs606231407
1 combination linked to FGF8:c.451G>A, p.Gly151Ser OLI779
1 disease linked to FGF8:c.451G>A, p.Gly151Ser Kallmann syndrome
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