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Details for CHD7:c.1565G>T, p.Gly522Val

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61655556	60742997

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1565G>T

PROTEIN CHANGE

p.Gly522Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0062	0.0	0.0	0.0298	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002666	6.483e-05	0.0001451	0.0	0.03468	0.0	8.878e-06	0.00248	0.0005895

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.323883	Polymorphism

DBSNP ID

1 combination linked to CHD7:c.1565G>T, p.Gly522Val

1 disease linked to CHD7:c.1565G>T, p.Gly522Val

Normosmic congenital hypogonadotropic hypogonadism

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