Details for FGFR1:c.834dup, p.Val279ArgfsTer24

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3828364338426125
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGFR1
REFERENCE ALLELE C
ALTERNATE ALLELE CG
TRANSCRIPT NM_001174067.1
CDNA CHANGE c.834dup
PROTEIN CHANGE p.Val279ArgfsTer24
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.313571Disease causing
DBSNP ID NA
1 combination linked to FGFR1:c.834dup, p.Val279ArgfsTer24 OLI1107
1 disease linked to FGFR1:c.834dup, p.Val279ArgfsTer24 Kallmann syndrome
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