Details for FGFR1:c.2059_2060delGGinsAA, p.Gly687Asn

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827176638414248
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE FGFR1
REFERENCE ALLELE CC
ALTERNATE ALLELE TT
TRANSCRIPT NM_001174064.2
CDNA CHANGE c.2059_2060delGGinsAA
PROTEIN CHANGE p.Gly687Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.179836None
DBSNP ID NA
1 combination linked to FGFR1:c.2059_2060delGGinsAA, p.Gly687Asn OLI288
1 disease linked to FGFR1:c.2059_2060delGGinsAA, p.Gly687Asn Kallmann syndrome
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