Details for FGFR1:c.853C>T, p.Arg285Trp

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3828220338424685
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGFR1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.853C>T
PROTEIN CHANGE p.Arg285Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.965077Disease causing
DBSNP ID NA
1 combination linked to FGFR1:c.853C>T, p.Arg285Trp OLI1161
1 disease linked to FGFR1:c.853C>T, p.Arg285Trp Kallmann syndrome
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