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.1626delC, p.Phe543SerfsTer7

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
144095522	144398429

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

AG

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1626delC

PROTEIN CHANGE

p.Phe543SerfsTer7

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
0.0006219	0.0004632

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	3.94439	Disease causing

DBSNP ID

1 combination linked to NOBOX:c.1626delC, p.Phe543SerfsTer7

1 disease linked to NOBOX:c.1626delC, p.Phe543SerfsTer7

Primary ovarian failure

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