Details for FGFR1:c.748C>T, p.Arg250Trp

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3828221538424697
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FGFR1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_023110.2
CDNA CHANGE c.748C>T
PROTEIN CHANGE p.Arg250Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.923684Disease causing
DBSNP ID NA
1 combination linked to FGFR1:c.748C>T, p.Arg250Trp OLI075
1 disease linked to FGFR1:c.748C>T, p.Arg250Trp Isolated congenital anosmia

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