Details for FGFR1:c.1211delT, p.Leu404ArgfsTer27

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827721638419698
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGFR1
REFERENCE ALLELE CA
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.1211delT
PROTEIN CHANGE p.Leu404ArgfsTer27
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.387423None
DBSNP ID NA
1 combination linked to FGFR1:c.1211delT, p.Leu404ArgfsTer27 OLI1105
1 disease linked to FGFR1:c.1211delT, p.Leu404ArgfsTer27 Kallmann syndrome
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