Details for FGFR1:c.801C>G, p.Tyr267Ter

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3828367738426159
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGFR1
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.801C>G
PROTEIN CHANGE p.Tyr267Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone3.69159Disease causing
DBSNP ID NA
1 combination linked to FGFR1:c.801C>G, p.Tyr267Ter OLI1338
1 disease linked to FGFR1:c.801C>G, p.Tyr267Ter Kallmann syndrome
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