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Details for CHD7:c.8366C>T, p.Ala2789Val

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
61777864	60865305

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.8366C>T

PROTEIN CHANGE

p.Ala2789Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
7.81e-05	0.0004773	0.0	0.0	0.0	4.791e-05	6.345e-05	0.0005064	3.338e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.967775	Polymorphism

DBSNP ID

1 combination linked to CHD7:c.8366C>T, p.Ala2789Val

1 disease linked to CHD7:c.8366C>T, p.Ala2789Val

Hypogonadotropic hypogonadism with absent puberty phenotype

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