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Details for AKR1C3:c.36T>G, p.Asp12Glu

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
5091039	5048847

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.36T>G

PROTEIN CHANGE

p.Asp12Glu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.593e-05	0.0	8.675e-05	0.0	0.0	0.0	8.81e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.787832	None

DBSNP ID

1 combination linked to AKR1C3:c.36T>G, p.Asp12Glu

1 disease linked to AKR1C3:c.36T>G, p.Asp12Glu

46,XY disorder of sex development

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