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Details for AKR1C4:c.589C>T, p.Leu197Phe

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
5254597	5212634

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.589C>T

PROTEIN CHANGE

p.Leu197Phe

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
3.983e-06	0.0	0.0	0.0	0.0	0.0	8.81e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.862553	Polymorphism

DBSNP ID

1 combination linked to AKR1C4:c.589C>T, p.Leu197Phe

1 disease linked to AKR1C4:c.589C>T, p.Leu197Phe

46,XY disorder of sex development

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