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Details for NR0B1:c.16C>A, p.His6Asn

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
30327465	30309348

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.16C>A

PROTEIN CHANGE

p.His6Asn

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.0	0.0026	0.0014

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001189	0.0002945	0.0007585	0.003401	0.0	0.0005604	0.001541	0.001501	0.001201

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.808748	Polymorphism

DBSNP ID

1 combination linked to NR0B1:c.16C>A, p.His6Asn

1 disease linked to NR0B1:c.16C>A, p.His6Asn

46,XY disorder of sex development

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