Details for OTOF:c.5098G>C, p.Glu1700Gln

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
2668683726463969
VARIANT EFFECT None
ANNOTATION FLAG None
GENE OTOF
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_001287489
CDNA CHANGE c.5098G>C
PROTEIN CHANGE p.Glu1700Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00160.00.00.00790.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0005120.00.00.00.0069130.00.00.00016330.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.875314Disease causing
DBSNP ID NA
1 combination linked to OTOF:c.5098G>C, p.Glu1700Gln OLI1318
1 disease linked to OTOF:c.5098G>C, p.Glu1700Gln Rare genetic deafness
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