Details for SOX10:c.593G>A, p.Gly198Asp

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
3837397837977971
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SOX10
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.593G>A
PROTEIN CHANGE p.Gly198Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.716153Disease causing
DBSNP ID NA
1 combination linked to SOX10:c.593G>A, p.Gly198Asp OLI1323
1 disease linked to SOX10:c.593G>A, p.Gly198Asp Kallmann syndrome
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