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Details for CHD7:c.5533G>A, p.Gly1845Arg

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61763180	60850621

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.5533G>A

PROTEIN CHANGE

p.Gly1845Arg

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
4.151e-05	0.0	2.979e-05	0.0005066	0.0	0.0	1.839e-05	0.0001702	3.388e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	4.01061	Disease causing

DBSNP ID

1 combination linked to CHD7:c.5533G>A, p.Gly1845Arg

1 disease linked to CHD7:c.5533G>A, p.Gly1845Arg

Hypogonadotropic hypogonadism with absent puberty phenotype

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