Details for AKR1C4:c.826C>T, p.Arg276Trp

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
52551025213139
VARIANT EFFECT None
ANNOTATION FLAG None
GENE AKR1C4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001818
CDNA CHANGE c.826C>T
PROTEIN CHANGE p.Arg276Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
5.174e-056.152e-050.00.00.00043490.02.641e-050.03.267e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.564484Polymorphism
DBSNP ID NA
1 combination linked to AKR1C4:c.826C>T, p.Arg276Trp OLI1535
1 disease linked to AKR1C4:c.826C>T, p.Arg276Trp 46,XY disorder of sex development
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