Details for SOX8:c.694A>C, p.Lys232Gln

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
984739934739
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SOX8
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.694A>C
PROTEIN CHANGE p.Lys232Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNonePolymorphism
DBSNP ID NA
1 combination linked to SOX8:c.694A>C, p.Lys232Gln OLI1749
1 disease linked to SOX8:c.694A>C, p.Lys232Gln 46,XY disorder of sex development
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