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Details for AKR1C3:c.548A>G, p.Lys183Arg

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
5141619	5099427

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.548A>G

PROTEIN CHANGE

p.Lys183Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	0.0008	0.0029	0.0	0.004	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001666	0.0001845	0.002602	0.0001985	0.0	4.619e-05	0.002708	0.002444	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.223913	Polymorphism

DBSNP ID

1 combination linked to AKR1C3:c.548A>G, p.Lys183Arg

1 disease linked to AKR1C3:c.548A>G, p.Lys183Arg

Disorder of sex development

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