Details for FGFR1:c.165_171del, p.Arg56GlyfsTer45

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3828738638429868
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE FGFR1
REFERENCE ALLELE GCAGCCGA
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.165_171del
PROTEIN CHANGE p.Arg56GlyfsTer45
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.141403Disease causing
DBSNP ID NA
1 combination linked to FGFR1:c.165_171del, p.Arg56GlyfsTer45 OLI036
2 diseases linked to FGFR1:c.165_171del, p.Arg56GlyfsTer45 Isolated congenital hypogonadotropic hypogonadism; Kallmann syndrome
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