Details for FGFR1:c.1430+1delG,

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827574638418228
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGFR1
REFERENCE ALLELE CC
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.1430+1delG
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneDisease causing
DBSNP ID NA
1 combination linked to FGFR1:c.1430+1delG, OLI1593
1 disease linked to FGFR1:c.1430+1delG, Kallmann syndrome
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