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Details for AKR1C3:c.548A>T, p.Lys183Met

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
5141619	5099427

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.548A>T

PROTEIN CHANGE

p.Lys183Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0026	0.0098	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0009027	0.01218	0.0004047	0.0	0.0	0.0	0.0001143	0.0003258	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.595888	Polymorphism

DBSNP ID

1 combination linked to AKR1C3:c.548A>T, p.Lys183Met

1 disease linked to AKR1C3:c.548A>T, p.Lys183Met

46,XY disorder of sex development

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