Details for FGFR1:c.1961dupA, p.Tyr654Ter

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827231338414795
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGFR1
REFERENCE ALLELE T
ALTERNATE ALLELE TT
TRANSCRIPT N.A.
CDNA CHANGE c.1961dupA
PROTEIN CHANGE p.Tyr654Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone6.026019Disease causing
DBSNP ID NA
1 combination linked to FGFR1:c.1961dupA, p.Tyr654Ter OLI1598
1 disease linked to FGFR1:c.1961dupA, p.Tyr654Ter Kallmann syndrome
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