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Details for CHD7:c.6190A>G, p.Ile2064Val

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61765474	60852915

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.6190A>G

PROTEIN CHANGE

p.Ile2064Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
4.012e-06	0.0	0.0	0.0	5.563e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.468745	Polymorphism

DBSNP ID

1 combination linked to CHD7:c.6190A>G, p.Ile2064Val

1 disease linked to CHD7:c.6190A>G, p.Ile2064Val

Hypogonadotropic hypogonadism with absent puberty phenotype

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