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Details for NR0B1:c.979G>A, p.Glu327Lys

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
30326502	30308385

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.979G>A

PROTEIN CHANGE

p.Glu327Lys

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
5.787e-05	0.0	0.0001497	0.0	0.0	0.0	7.992e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.240751	Polymorphism

DBSNP ID

1 combination linked to NR0B1:c.979G>A, p.Glu327Lys

1 disease linked to NR0B1:c.979G>A, p.Glu327Lys

Syndrome with 46,XY disorder of sex development

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