Details for FGFR1:c.2008G>A, p.Glu670Lys

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827211738414599
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FGFR1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_023110.2
CDNA CHANGE c.2008G>A
PROTEIN CHANGE p.Glu670Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.522409Disease causing
DBSNP ID rs397515446
1 combination linked to FGFR1:c.2008G>A, p.Glu670Lys OLI372
1 disease linked to FGFR1:c.2008G>A, p.Glu670Lys Kallmann syndrome
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