Details for FGFR1:c.1093_1094dupAG, p.Pro366fs

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827724038419722
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGFR1
REFERENCE ALLELE C
ALTERNATE ALLELE CCT
TRANSCRIPT N.A.
CDNA CHANGE c.1093_1094dupAG
PROTEIN CHANGE p.Pro366fs
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.7403Disease causing
DBSNP ID NA
1 combination linked to FGFR1:c.1093_1094dupAG, p.Pro366fs OLI1603
1 disease linked to FGFR1:c.1093_1094dupAG, p.Pro366fs Kallmann syndrome
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