This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for NR0B1:c.379G>A, p.Ala127Thr

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
30327102	30308985

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.379G>A

PROTEIN CHANGE

p.Ala127Thr

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
0.0001011	0.0	0.0	0.0	0.001101	0.0	2.556e-05	0.0002262	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.890909	Polymorphism

DBSNP ID

1 combination linked to NR0B1:c.379G>A, p.Ala127Thr

1 disease linked to NR0B1:c.379G>A, p.Ala127Thr

Normosmic congenital hypogonadotropic hypogonadism

Found any issues with the data on this page? Report this entry.