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 NOBOX:c.271G>T, p.Gly91Trp

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
144098983	144401890

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.271G>T

PROTEIN CHANGE

p.Gly91Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0086	0.031	0.0029	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002144	0.02682	0.002698	0.0	0.0	0.0	0.0001244	0.001489	6.54e-05

ESP
AA	EA
0.02932	0.0001217

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	1.392327	Polymorphism

DBSNP ID

2 combinations linked to NOBOX:c.271G>T, p.Gly91Trp

1 disease linked to NOBOX:c.271G>T, p.Gly91Trp

Primary ovarian failure

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