Details for DGKK:c.316G>A, p.Ala106Thr

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
5021336250470363
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DGKK
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001013742.4
CDNA CHANGE c.316G>A
PROTEIN CHANGE p.Ala106Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.269242None
DBSNP ID rs1200595728
1 combination linked to DGKK:c.316G>A, p.Ala106Thr OLI996
2 diseases linked to DGKK:c.316G>A, p.Ala106Thr Androgen insensitivity syndrome; 46,XY disorder of sex development
Found any issues with the data on this page? Report this entry.