Details for FGFR1:c.1864C>T, p.Arg622Ter

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827241038414892
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE FGFR1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_023110.2
CDNA CHANGE c.1864C>T
PROTEIN CHANGE p.Arg622Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone7.712539Disease causing
DBSNP ID rs121909628
1 combination linked to FGFR1:c.1864C>T, p.Arg622Ter OLI390
1 disease linked to FGFR1:c.1864C>T, p.Arg622Ter Kallmann syndrome
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