Details for FGFR1:c.1704+1G>A,

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827229638414778
VARIANT EFFECT splicing
ANNOTATION FLAG manually_attributed
GENE FGFR1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_023106.3
CDNA CHANGE c.1704+1G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.62553Disease causing
DBSNP ID rs876661334
1 combination linked to FGFR1:c.1704+1G>A, OLI835
1 disease linked to FGFR1:c.1704+1G>A, Kallmann syndrome
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