Details for FGFR1:c.1042G>A, p.Gly348Arg

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827935438421836
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FGFR1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_023110.2
CDNA CHANGE c.1042G>A
PROTEIN CHANGE p.Gly348Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.521399Disease causing
DBSNP ID rs886037634
1 combination linked to FGFR1:c.1042G>A, p.Gly348Arg OLI365
1 disease linked to FGFR1:c.1042G>A, p.Gly348Arg Kallmann syndrome
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