Details for FGFR1:c.1034_c, p.Ser345CysfsTer54

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827945338421935
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGFR1
REFERENCE ALLELE CAG
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.1034_c
PROTEIN CHANGE p.Ser345CysfsTer54
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.279911Disease causing
DBSNP ID NA
1 combination linked to FGFR1:c.1034_c, p.Ser345CysfsTer54 OLI1339
1 disease linked to FGFR1:c.1034_c, p.Ser345CysfsTer54 Kallmann syndrome
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