Details for FGFR1:c.1409G>T, p.Arg470Leu

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827576738418249
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FGFR1
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_023110.2
CDNA CHANGE c.1409G>T
PROTEIN CHANGE p.Arg470Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.202e-050.00012912.896e-050.00.00.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.927332Disease causing
DBSNP ID rs121909637
1 combination linked to FGFR1:c.1409G>T, p.Arg470Leu OLI199
2 diseases linked to FGFR1:c.1409G>T, p.Arg470Leu Normosmic congenital hypogonadotropic hypogonadism; Isolated congenital hypogonadotropic hypogonadism
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