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 CHD7:c.2675G>A, p.Arg892His

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61732627	60820068

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2675G>A

PROTEIN CHANGE

p.Arg892His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001392	0.000133	0.0	0.0	0.0002264	0.0	3.611e-05	0.0	0.0008154

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.04504	Polymorphism

DBSNP ID

1 combination linked to CHD7:c.2675G>A, p.Arg892His

1 disease linked to CHD7:c.2675G>A, p.Arg892His

Normosmic congenital hypogonadotropic hypogonadism

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