Details for FGFR1:c.533G>A, p.Cys178Tyr

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3828552738428009
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGFR1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_023110.3
CDNA CHANGE c.533G>A
PROTEIN CHANGE p.Cys178Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.198402Disease causing
DBSNP ID NA
1 combination linked to FGFR1:c.533G>A, p.Cys178Tyr OLI1302
1 disease linked to FGFR1:c.533G>A, p.Cys178Tyr Kallmann syndrome
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