Details for SOX10:c.89C>A, p.Ser30Ter

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
3837970337983696
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SOX10
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.89C>A
PROTEIN CHANGE p.Ser30Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.498218Disease causing
DBSNP ID NA
1 combination linked to SOX10:c.89C>A, p.Ser30Ter OLI1599
1 disease linked to SOX10:c.89C>A, p.Ser30Ter Kallmann syndrome
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