Details for AKR1C4:c.227G>C, p.Arg76Thr

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
52422865200323
VARIANT EFFECT None
ANNOTATION FLAG None
GENE AKR1C4
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_001818
CDNA CHANGE c.227G>C
PROTEIN CHANGE p.Arg76Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.0030.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00023520.0023390.00028950.00.00.07.051e-050.00049080.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.355766Polymorphism
DBSNP ID NA
1 combination linked to AKR1C4:c.227G>C, p.Arg76Thr OLI1563
1 disease linked to AKR1C4:c.227G>C, p.Arg76Thr Syndrome with 46,XY disorder of sex development
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