Details for FGFR1:c.340-344delTTCTC, p.Phe114fs13

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
NoneNone
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGFR1
REFERENCE ALLELE None
ALTERNATE ALLELE None
TRANSCRIPT N.A.
CDNA CHANGE c.340-344delTTCTC
PROTEIN CHANGE p.Phe114fs13
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
--None-
DBSNP ID NA
1 combination linked to FGFR1:c.340-344delTTCTC, p.Phe114fs13 OLI1336
1 disease linked to FGFR1:c.340-344delTTCTC, p.Phe114fs13 Kallmann syndrome
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