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Details for NR0B1:c.1253C>T, p.Thr418Met

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
30322856	30304739

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1253C>T

PROTEIN CHANGE

p.Thr418Met

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
2.724e-05	0.0	0.0	0.0	0.0	0.0	4.88e-05	0.0002206	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.725298	Polymorphism

DBSNP ID

1 combination linked to NR0B1:c.1253C>T, p.Thr418Met

1 disease linked to NR0B1:c.1253C>T, p.Thr418Met

Hypogonadotropic hypogonadism with absent puberty phenotype

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