Details for FGFR1:c.2075A>G, p.Glu692Gly

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827178138414263
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FGFR1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_023110.2
CDNA CHANGE c.2075A>G
PROTEIN CHANGE p.Glu692Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.572856Disease causing
DBSNP ID rs397515445
1 combination linked to FGFR1:c.2075A>G, p.Glu692Gly OLI368
1 disease linked to FGFR1:c.2075A>G, p.Glu692Gly Kallmann syndrome
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