Details for FGFR1:c.838+3A>T,

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3828363738426119
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGFR1
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.838+3A>T
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.955065Disease causing
DBSNP ID NA
1 combination linked to FGFR1:c.838+3A>T, OLI1322
1 disease linked to FGFR1:c.838+3A>T, Kallmann syndrome

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