Details for FGFR1:c.888T>A, p.Asn296Lys

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3828207538424557
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGFR1
REFERENCE ALLELE A
ALTERNATE ALLELE T
TRANSCRIPT NM_023110.3
CDNA CHANGE c.888T>A
PROTEIN CHANGE p.Asn296Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging1.462105Disease causing
DBSNP ID NA
1 combination linked to FGFR1:c.888T>A, p.Asn296Lys OLI1285
1 disease linked to FGFR1:c.888T>A, p.Asn296Lys Kallmann syndrome
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