Details for FGFR1:c.841C>T,

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3828221538424697
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGFR1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.841C>T
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.923684Disease causing
DBSNP ID NA
1 combination linked to FGFR1:c.841C>T, OLI1159
1 disease linked to FGFR1:c.841C>T, Kallmann syndrome

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