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 GNRH1:c.272_274delAGA, p.Lys91del

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
25276939	25419423

VARIANT EFFECT

deletion

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

ATCT

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.272_274delAGA

PROTEIN CHANGE

p.Lys91del

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
7.621e-05	0.0007107	0.000116	0.0	0.0	0.0	8.84e-06	0.0	9.805e-05

ESP
AA	EA
0.0002834	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.804008	Polymorphism

DBSNP ID

1 combination linked to GNRH1:c.272_274delAGA, p.Lys91del

1 disease linked to GNRH1:c.272_274delAGA, p.Lys91del

Normosmic congenital hypogonadotropic hypogonadism

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