Details for FGFR1:c.854C>G, p.Pro285Arg

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3828210938424591
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FGFR1
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_023110.2
CDNA CHANGE c.854C>G
PROTEIN CHANGE p.Pro285Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.550013Disease causing
DBSNP ID rs779380483
1 combination linked to FGFR1:c.854C>G, p.Pro285Arg OLI456
1 disease linked to FGFR1:c.854C>G, p.Pro285Arg Kallmann syndrome
Found any issues with the data on this page? Report this entry.